chr1-161305807-G-GACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGGGCAACTGTAGACCTTTTTGTTCTACAGGAGGGGGAGGTGGCAACCAAACAAAGTTCCATTGTCTGACCAACGCTGGGGGGCTCATGCCACCCCTACTCCCACCCCAACTGTCCTGAATCTCTCACCTCAGCATGCAATACCATGTACTTACCTTCTGGAACTTCCACCTTAGAACCTTCTTGGGAATCCCCCTTGTTTAACAAGGGAGATAATTCACTGGCTCTAACTTCTATTCCTCCTGTTACAATATCAACCATTGCCCTTCTCAGCTGTGCTCAATGGTTCTATGAGTGGAACAAGTGTTGAGACACAACTCTCCCTCTTCCTTATACATCAAGATTCCTTCCCCCTATTTCCCTCACTATGCCCTTCTCCAACTCTCTATCTTTAACATTTTCTCAGGGTACCCCCAAATAGCCCAGTACAACCCAGAAGAGTCTAGGGCTCAAGCAGCTGACAGCAGAGAACCCTGGGCATTCTGGCCAGCCCCCTTTCCCTTGATGTCCTCCCCACCACCCCCACTTGCCTATGGCTCACTCATTGCACTAGGATTCAGGGCAGTTCAGAGAAGGGAAGGGGCCATTCCAATAATCCTGCTTTGACCTCTTACTCACCCAACATCTGCCAGGGGGCAAGGAAAGGGCTGGTCAGCTTATGAAGGAAGACAGCTTTAGAGGGATAAGATCCCAGAATCTCATAGAACCTCACTCCATTCACCCACACAACAGGTGAGGAGCCATAGAGAGACAAAAAATCTGAGGAGCTGAGACCACAAACCTGGGCTCCTTACTTAGATCGCACTCTCTTTTTCCTTCTGGGAAACTAAGGTTAAGGCACCTCCTGCACTGCTAGGGGACGAGTGGGAACCAAACCCAGGTGTTTGAGCCTATTTCTTTATGTAATCTAACACTGCTTCCCACCAGGCTGTTAGCATGGCTCTGGGGGCATGCTACTATTTCCAACCTGGGTCCAGCCATGGCCACCACTCAGGGAAGCTTGCTACACTCTCTTTTACCCTTTCTTTTAAAATAAAACCTCTACTTCCTCCCTCTAAATGCATATTTTTTTCTTTTCATATATATATATATATATTTTTTTTTTTTTTGAATTTTACAGATGGAGTCTGGTTATGTTGTCCAGGCTGGTCTCCAACTCCTGGGGCTCAAATAATTATCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCGCATATTTTTTCTTTCTGAATATAATGTCACCTTCCTGCTCCTGCTTGTTCTTTCTTTGGTTGCAGTGGGGAGTGCAGCAAAGGCTGTGGGGATTGCTGAGAGACACCTGAGTCCCAAGACTCCCAGAGTAGAGTGGCTCCACTTACCCAAAGAAGAGAAGAGCAGCACAGCCAGGATAGGGCTGGGGCTGGATGAGGGAGCCCCAGGAGCCATAGCTGGGGCAGGGGCAGGGGCCCGGAGCATCTGTGGGGTTGAGAAAGTGGGGGACCAGGAACTGAACGGGGGGTTCCT
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PVS1_StrongPM2PP5_Moderate
The NM_001315491.2(MPZ):​c.815_816insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT​(p.Val272_Ile273insGlyThrProArgSerValProGlyProProLeuSerGlnProHisArgCysSerGlyProLeuProLeuProGlnLeuTrpLeuLeuGlyLeuProHisProAlaProAlaLeuSerTrpLeuCysCysSerSerLeuLeuTrpValSerGlyAlaThrLeuLeuTrpGluSerTrpAspSerGlyValSerGlnGlnSerProGlnProLeuLeuHisSerProLeuGlnProLysLysGluGlnAlaGlyAlaGlyArgTerHisTyrIleGlnLysGluLysIleCysGlyTrpAlaTrpTrpLeuMetProValIleProAlaLeuTrpGluAlaLysValGlyTerLeuPheGluProGlnGluLeuGluThrSerLeuAspAsnIleThrArgLeuHisLeuTerAsnSerLysLysLysLysIleTyrIleTyrIleTyrGluLysLysLysIleCysIleTerArgGluGluValGluValLeuPheTerLysLysGlyTerLysArgValTerGlnAlaSerLeuSerGlyGlyHisGlyTrpThrGlnValGlyAsnSerSerMetProProGluProCysTerGlnProGlyGlyLysGlnCysTerIleThrTerArgAsnArgLeuLysHisLeuGlyLeuValProThrArgProLeuAlaValGlnGluValProTerProTerPheProArgArgLysLysArgValArgSerLysTerGlyAlaGlnValCysGlyLeuSerSerSerAspPheLeuSerLeuTyrGlySerSerProValValTrpValAsnGlyValArgPheTyrGluIleLeuGlySerTyrProSerLysAlaValPheLeuHisLysLeuThrSerProPheLeuAlaProTrpGlnMetLeuGlyGluTerGluValLysAlaGlyLeuLeuGluTrpProLeuProPheSerGluLeuProTerIleLeuValGlnTerValSerHisArgGlnValGlyValValGlyArgThrSerArgGluArgGlyLeuAlaArgMetProArgValLeuCysCysGlnLeuLeuGluProTerThrLeuLeuGlyCysThrGlyLeuPheGlyGlyThrLeuArgLysCysTerArgTerArgValGlyGluGlyHisSerGluGlyAsnArgGlyLysGluSerTerCysIleArgLysArgGluSerCysValSerThrLeuValProLeuIleGluProLeuSerThrAlaGluLysGlyAsnGlyTerTyrCysAsnArgArgAsnArgSerTerSerGlnTerIleIleSerLeuValLysGlnGlyGlyPheProArgArgPheTerGlyGlySerSerArgArgTerValHisGlyIleAlaCysTerGlyGluArgPheArgThrValGlyValGlyValGlyValAlaTerAlaProGlnArgTrpSerAspAsnGlyThrLeuPheGlyCysHisLeuProLeuLeuTerAsnLysLysValTyrSerCysProSerLeuGlyProAlaHisThrHisSerLeuSerGlyMetThrPheLeuValTrpValSerLeuGlyAspGlyThrGlyProGlnTrpProArgGlyArgTerGlyGlnLeuAsnHisArgGlyLeuThrCysArgValIleTerAlaValGlyLeuGlyCysCysSerAlaProSerTerGluGlyTyrGluAlaLeuProPheLeuThrLeuGlnSerArgAlaSerCysMetAlaThrArgAspSerAlaMetArgThrValValProGlyLysLysThrTyrIlePheTerLeuSerSerPhePheSerAlaArgAsnLeuSerLeuLeuTyrCysGluIleGlnCysSerCysTerAsnLysIleAspIleTyrGluSerThrGlyLysAlaProProAspThrTerValLeuLysGlnLysAspThrArgIleGlnCysAsnMetTyrValGluLysLysThrProGlnAsnTyrLeuLeuTerValCysValTyrLeuGluPheIleGluPheIleLeuSerLeuIleHisIleLysTrpIleThrCysTyrIleLeuGluGlyAsnThrGlyLysGluPheValGlyLeuSerValLysGlyAspPheCysPheIleSerIleAlaTerIleValTyrLysLysSerThrIleCysIleThrCysIleIleTyrAsnLysPheTerLysPheArgThrLeuHisLeuLysAspSerLeuLysValArgTyrTerProLysGlyGluValArgLeuLysAspArgThrGlnSerLeuGluValLeuLysArgIleLeuLeuLeuLeuIleSerSerSerLeuGlnThrCysTerArgAlaTerGlnThrGlnHisLeuCysSerSerValGlnLeuValProArgAspLeuGlyLeuArgIleCysCysPhePheSerLysLeuAlaSerAspLeuTerLeuSerThrTerPheProThrAspLeuThrSerSerValSerLeuThrGlyProIleGlyAlaSerAspSerProLeuCysAlaCysSerAlaValProGlyProGlyHisArgGlyLeuHisArgGlnGlyGlyProTrpCysCysGlyLeuProGlyAspProAlaLeuLeuLeuLeuValGlnTerValGlyLeuArgTerHisLeuLeuHisLeuAlaLeuProAlaArgArgGlyGlnArgCysHisPheGlyGluCysLeuGlyGluSerTrpGlyTrpIleThrGluSerAlaSerLysAsnAsnLysLysAspAsnLeuGlyTerGlyGlyGlyAsnProPheTerAlaIleThrProThrLeuAlaArgTerMetThrValPheValThrLeuThrThrLeuSerSerLeuLeuGlnHisTyrProPheGlnProLysIleProTyrProGluAlaGlyAlaLysLeuPhePhePhePhePhePhePheCysPhePheLeuSerValThrAsnTyrGlyAlaLysLeuTerGlnLeuCysSerHisTerGlyProLeuThrCysPheProSerPheLeuIleAspLeuProLeuCysGlnGlyThrThrLeuHisTerArgGlyGlyAspLeuGlnArgAlaHisProValGlyArgGlyProSerLeuGluGlyTrpLeuHisCysHisThrGlnProArgLeuGlnTerGlnTrpHisValHisLeuTerArgGlnLysProSerArgHisSerGlyGlnAspLeuSerGlyHisAlaValCysLeuTerLysArgCysGluLysGlyTrpGlyGlnGlyTyrGlyLysGlnPheGlyArgGlySerGlyArgThrAspArgLeuGlyGluGluAlaLysSerProAlaTerGlyProLeuPheArgLeuTrpGluArgGlyGlnLysAlaValLeuAlaGlySerProThrSerSerMetGlnGlyIleHisSerAspTerGluProGlnIleGlnGlyProAlaHisSerProThrSerPheProThrProProSerAlaAsnTerValArgGlyArgSerGlySerCysAspArgGlyCysProArgGlyGlyAlaValAlaAlaAlaAlaPheLeuArgGlySerValLeuLeuAlaThrGlnAlaGlyGlyProAlaGluGluAlaGlnValArgGlyGlyAlaTerLeuProSerProSerProHisTyrProProSerGlyArgArgLeuLeuGlnTrpValGlyGlyProArgGlyArgGlySerCysValArgGlyAlaArgGlySerGlyGluAlaLysArgThrAlaValSerLeuLeuAlaValLeuTrpArgArgGlyAsnCysThrSerGlnGluArgThrArgArgSerAlaGlyGlyArgLeuAlaGlyLeuGlyAlaTerThrArgTrpGluGlyGluProTrpGluProProGlySerSerGluGlyTrpAspGlyAsnSerGlnAlaProValAlaArgTerLeuMetCysAlaProLeuProGlnThrProValLeuTyrAlaMetLeuAspHisSerArgSerThrLysAlaValSerGluLysLysAlaLysGlyLeuGlyGluSerArgLysAspLysLysTerArgLeuAlaGlyArgAlaGlyAspArgGlyLeuGlyValGluSerAlaLysGlyProLysValMetVal) variant causes a stop gained, disruptive inframe insertion change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Likely pathogenic (★).
Frequency
Genomes: not found (cov: 31)
Consequence
MPZ
NM_001315491.2 stop_gained, disruptive_inframe_insertion
NM_001315491.2 stop_gained, disruptive_inframe_insertion
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 4.14
Genes affected
MPZ (HGNC:7225): (myelin protein zero) This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN). A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2015]
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ACMG classification
Classification made for transcript
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
PVS1
Loss of function variant, product does not undergo nonsense mediated mRNA decay. Variant is located in the 3'-most exon, not predicted to undergo nonsense mediated mRNA decay. Fraction of 0.132 CDS is truncated, and there are 1 pathogenic variants in the truncated region.
PM2
Very rare variant in population databases, with high coverage;
PP5
Variant 1-161305807-G-GACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGGGCAACTGTAGACCTTTTTGTTCTACAGGAGGGGGAGGTGGCAACCAAACAAAGTTCCATTGTCTGACCAACGCTGGGGGGCTCATGCCACCCCTACTCCCACCCCAACTGTCCTGAATCTCTCACCTCAGCATGCAATACCATGTACTTACCTTCTGGAACTTCCACCTTAGAACCTTCTTGGGAATCCCCCTTGTTTAACAAGGGAGATAATTCACTGGCTCTAACTTCTATTCCTCCTGTTACAATATCAACCATTGCCCTTCTCAGCTGTGCTCAATGGTTCTATGAGTGGAACAAGTGTTGAGACACAACTCTCCCTCTTCCTTATACATCAAGATTCCTTCCCCCTATTTCCCTCACTATGCCCTTCTCCAACTCTCTATCTTTAACATTTTCTCAGGGTACCCCCAAATAGCCCAGTACAACCCAGAAGAGTCTAGGGCTCAAGCAGCTGACAGCAGAGAACCCTGGGCATTCTGGCCAGCCCCCTTTCCCTTGATGTCCTCCCCACCACCCCCACTTGCCTATGGCTCACTCATTGCACTAGGATTCAGGGCAGTTCAGAGAAGGGAAGGGGCCATTCCAATAATCCTGCTTTGACCTCTTACTCACCCAACATCTGCCAGGGGGCAAGGAAAGGGCTGGTCAGCTTATGAAGGAAGACAGCTTTAGAGGGATAAGATCCCAGAATCTCATAGAACCTCACTCCATTCACCCACACAACAGGTGAGGAGCCATAGAGAGACAAAAAATCTGAGGAGCTGAGACCACAAACCTGGGCTCCTTACTTAGATCGCACTCTCTTTTTCCTTCTGGGAAACTAAGGTTAAGGCACCTCCTGCACTGCTAGGGGACGAGTGGGAACCAAACCCAGGTGTTTGAGCCTATTTCTTTATGTAATCTAACACTGCTTCCCACCAGGCTGTTAGCATGGCTCTGGGGGCATGCTACTATTTCCAACCTGGGTCCAGCCATGGCCACCACTCAGGGAAGCTTGCTACACTCTCTTTTACCCTTTCTTTTAAAATAAAACCTCTACTTCCTCCCTCTAAATGCATATTTTTTTCTTTTCATATATATATATATATATTTTTTTTTTTTTTGAATTTTACAGATGGAGTCTGGTTATGTTGTCCAGGCTGGTCTCCAACTCCTGGGGCTCAAATAATTATCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCGCATATTTTTTCTTTCTGAATATAATGTCACCTTCCTGCTCCTGCTTGTTCTTTCTTTGGTTGCAGTGGGGAGTGCAGCAAAGGCTGTGGGGATTGCTGAGAGACACCTGAGTCCCAAGACTCCCAGAGTAGAGTGGCTCCACTTACCCAAAGAAGAGAAGAGCAGCACAGCCAGGATAGGGCTGGGGCTGGATGAGGGAGCCCCAGGAGCCATAGCTGGGGCAGGGGCAGGGGCCCGGAGCATCTGTGGGGTTGAGAAAGTGGGGGACCAGGAACTGAACGGGGGGTTCCT is Pathogenic according to our data. Variant chr1-161305807-G-GACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGGGCAACTGTAGACCTTTTTGTTCTACAGGAGGGGGAGGTGGCAACCAAACAAAGTTCCATTGTCTGACCAACGCTGGGGGGCTCATGCCACCCCTACTCCCACCCCAACTGTCCTGAATCTCTCACCTCAGCATGCAATACCATGTACTTACCTTCTGGAACTTCCACCTTAGAACCTTCTTGGGAATCCCCCTTGTTTAACAAGGGAGATAATTCACTGGCTCTAACTTCTATTCCTCCTGTTACAATATCAACCATTGCCCTTCTCAGCTGTGCTCAATGGTTCTATGAGTGGAACAAGTGTTGAGACACAACTCTCCCTCTTCCTTATACATCAAGATTCCTTCCCCCTATTTCCCTCACTATGCCCTTCTCCAACTCTCTATCTTTAACATTTTCTCAGGGTACCCCCAAATAGCCCAGTACAACCCAGAAGAGTCTAGGGCTCAAGCAGCTGACAGCAGAGAACCCTGGGCATTCTGGCCAGCCCCCTTTCCCTTGATGTCCTCCCCACCACCCCCACTTGCCTATGGCTCACTCATTGCACTAGGATTCAGGGCAGTTCAGAGAAGGGAAGGGGCCATTCCAATAATCCTGCTTTGACCTCTTACTCACCCAACATCTGCCAGGGGGCAAGGAAAGGGCTGGTCAGCTTATGAAGGAAGACAGCTTTAGAGGGATAAGATCCCAGAATCTCATAGAACCTCACTCCATTCACCCACACAACAGGTGAGGAGCCATAGAGAGACAAAAAATCTGAGGAGCTGAGACCACAAACCTGGGCTCCTTACTTAGATCGCACTCTCTTTTTCCTTCTGGGAAACTAAGGTTAAGGCACCTCCTGCACTGCTAGGGGACGAGTGGGAACCAAACCCAGGTGTTTGAGCCTATTTCTTTATGTAATCTAACACTGCTTCCCACCAGGCTGTTAGCATGGCTCTGGGGGCATGCTACTATTTCCAACCTGGGTCCAGCCATGGCCACCACTCAGGGAAGCTTGCTACACTCTCTTTTACCCTTTCTTTTAAAATAAAACCTCTACTTCCTCCCTCTAAATGCATATTTTTTTCTTTTCATATATATATATATATATTTTTTTTTTTTTTGAATTTTACAGATGGAGTCTGGTTATGTTGTCCAGGCTGGTCTCCAACTCCTGGGGCTCAAATAATTATCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCGCATATTTTTTCTTTCTGAATATAATGTCACCTTCCTGCTCCTGCTTGTTCTTTCTTTGGTTGCAGTGGGGAGTGCAGCAAAGGCTGTGGGGATTGCTGAGAGACACCTGAGTCCCAAGACTCCCAGAGTAGAGTGGCTCCACTTACCCAAAGAAGAGAAGAGCAGCACAGCCAGGATAGGGCTGGGGCTGGATGAGGGAGCCCCAGGAGCCATAGCTGGGGCAGGGGCAGGGGCCCGGAGCATCTGTGGGGTTGAGAAAGTGGGGGACCAGGAACTGAACGGGGGGTTCCT is described in ClinVar as [Likely_pathogenic]. Clinvar id is 243058.Status of the report is criteria_provided_single_submitter, 1 stars.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| MPZ | NM_000530.8 | c.*68_*69insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT | 3_prime_UTR_variant | 6/6 | ENST00000533357.5 | NP_000521.2 | ||
| MPZ | NM_001315491.2 | c.815_816insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT | p.Val272_Ile273insGlyThrProArgSerValProGlyProProLeuSerGlnProHisArgCysSerGlyProLeuProLeuProGlnLeuTrpLeuLeuGlyLeuProHisProAlaProAlaLeuSerTrpLeuCysCysSerSerLeuLeuTrpValSerGlyAlaThrLeuLeuTrpGluSerTrpAspSerGlyValSerGlnGlnSerProGlnProLeuLeuHisSerProLeuGlnProLysLysGluGlnAlaGlyAlaGlyArgTerHisTyrIleGlnLysGluLysIleCysGlyTrpAlaTrpTrpLeuMetProValIleProAlaLeuTrpGluAlaLysValGlyTerLeuPheGluProGlnGluLeuGluThrSerLeuAspAsnIleThrArgLeuHisLeuTerAsnSerLysLysLysLysIleTyrIleTyrIleTyrGluLysLysLysIleCysIleTerArgGluGluValGluValLeuPheTerLysLysGlyTerLysArgValTerGlnAlaSerLeuSerGlyGlyHisGlyTrpThrGlnValGlyAsnSerSerMetProProGluProCysTerGlnProGlyGlyLysGlnCysTerIleThrTerArgAsnArgLeuLysHisLeuGlyLeuValProThrArgProLeuAlaValGlnGluValProTerProTerPheProArgArgLysLysArgValArgSerLysTerGlyAlaGlnValCysGlyLeuSerSerSerAspPheLeuSerLeuTyrGlySerSerProValValTrpValAsnGlyValArgPheTyrGluIleLeuGlySerTyrProSerLysAlaValPheLeuHisLysLeuThrSerProPheLeuAlaProTrpGlnMetLeuGlyGluTerGluValLysAlaGlyLeuLeuGluTrpProLeuProPheSerGluLeuProTerIleLeuValGlnTerValSerHisArgGlnValGlyValValGlyArgThrSerArgGluArgGlyLeuAlaArgMetProArgValLeuCysCysGlnLeuLeuGluProTerThrLeuLeuGlyCysThrGlyLeuPheGlyGlyThrLeuArgLysCysTerArgTerArgValGlyGluGlyHisSerGluGlyAsnArgGlyLysGluSerTerCysIleArgLysArgGluSerCysValSerThrLeuValProLeuIleGluProLeuSerThrAlaGluLysGlyAsnGlyTerTyrCysAsnArgArgAsnArgSerTerSerGlnTerIleIleSerLeuValLysGlnGlyGlyPheProArgArgPheTerGlyGlySerSerArgArgTerValHisGlyIleAlaCysTerGlyGluArgPheArgThrValGlyValGlyValGlyValAlaTerAlaProGlnArgTrpSerAspAsnGlyThrLeuPheGlyCysHisLeuProLeuLeuTerAsnLysLysValTyrSerCysProSerLeuGlyProAlaHisThrHisSerLeuSerGlyMetThrPheLeuValTrpValSerLeuGlyAspGlyThrGlyProGlnTrpProArgGlyArgTerGlyGlnLeuAsnHisArgGlyLeuThrCysArgValIleTerAlaValGlyLeuGlyCysCysSerAlaProSerTerGluGlyTyrGluAlaLeuProPheLeuThrLeuGlnSerArgAlaSerCysMetAlaThrArgAspSerAlaMetArgThrValValProGlyLysLysThrTyrIlePheTerLeuSerSerPhePheSerAlaArgAsnLeuSerLeuLeuTyrCysGluIleGlnCysSerCysTerAsnLysIleAspIleTyrGluSerThrGlyLysAlaProProAspThrTerValLeuLysGlnLysAspThrArgIleGlnCysAsnMetTyrValGluLysLysThrProGlnAsnTyrLeuLeuTerValCysValTyrLeuGluPheIleGluPheIleLeuSerLeuIleHisIleLysTrpIleThrCysTyrIleLeuGluGlyAsnThrGlyLysGluPheValGlyLeuSerValLysGlyAspPheCysPheIleSerIleAlaTerIleValTyrLysLysSerThrIleCysIleThrCysIleIleTyrAsnLysPheTerLysPheArgThrLeuHisLeuLysAspSerLeuLysValArgTyrTerProLysGlyGluValArgLeuLysAspArgThrGlnSerLeuGluValLeuLysArgIleLeuLeuLeuLeuIleSerSerSerLeuGlnThrCysTerArgAlaTerGlnThrGlnHisLeuCysSerSerValGlnLeuValProArgAspLeuGlyLeuArgIleCysCysPhePheSerLysLeuAlaSerAspLeuTerLeuSerThrTerPheProThrAspLeuThrSerSerValSerLeuThrGlyProIleGlyAlaSerAspSerProLeuCysAlaCysSerAlaValProGlyProGlyHisArgGlyLeuHisArgGlnGlyGlyProTrpCysCysGlyLeuProGlyAspProAlaLeuLeuLeuLeuValGlnTerValGlyLeuArgTerHisLeuLeuHisLeuAlaLeuProAlaArgArgGlyGlnArgCysHisPheGlyGluCysLeuGlyGluSerTrpGlyTrpIleThrGluSerAlaSerLysAsnAsnLysLysAspAsnLeuGlyTerGlyGlyGlyAsnProPheTerAlaIleThrProThrLeuAlaArgTerMetThrValPheValThrLeuThrThrLeuSerSerLeuLeuGlnHisTyrProPheGlnProLysIleProTyrProGluAlaGlyAlaLysLeuPhePhePhePhePhePhePheCysPhePheLeuSerValThrAsnTyrGlyAlaLysLeuTerGlnLeuCysSerHisTerGlyProLeuThrCysPheProSerPheLeuIleAspLeuProLeuCysGlnGlyThrThrLeuHisTerArgGlyGlyAspLeuGlnArgAlaHisProValGlyArgGlyProSerLeuGluGlyTrpLeuHisCysHisThrGlnProArgLeuGlnTerGlnTrpHisValHisLeuTerArgGlnLysProSerArgHisSerGlyGlnAspLeuSerGlyHisAlaValCysLeuTerLysArgCysGluLysGlyTrpGlyGlnGlyTyrGlyLysGlnPheGlyArgGlySerGlyArgThrAspArgLeuGlyGluGluAlaLysSerProAlaTerGlyProLeuPheArgLeuTrpGluArgGlyGlnLysAlaValLeuAlaGlySerProThrSerSerMetGlnGlyIleHisSerAspTerGluProGlnIleGlnGlyProAlaHisSerProThrSerPheProThrProProSerAlaAsnTerValArgGlyArgSerGlySerCysAspArgGlyCysProArgGlyGlyAlaValAlaAlaAlaAlaPheLeuArgGlySerValLeuLeuAlaThrGlnAlaGlyGlyProAlaGluGluAlaGlnValArgGlyGlyAlaTerLeuProSerProSerProHisTyrProProSerGlyArgArgLeuLeuGlnTrpValGlyGlyProArgGlyArgGlySerCysValArgGlyAlaArgGlySerGlyGluAlaLysArgThrAlaValSerLeuLeuAlaValLeuTrpArgArgGlyAsnCysThrSerGlnGluArgThrArgArgSerAlaGlyGlyArgLeuAlaGlyLeuGlyAlaTerThrArgTrpGluGlyGluProTrpGluProProGlySerSerGluGlyTrpAspGlyAsnSerGlnAlaProValAlaArgTerLeuMetCysAlaProLeuProGlnThrProValLeuTyrAlaMetLeuAspHisSerArgSerThrLysAlaValSerGluLysLysAlaLysGlyLeuGlyGluSerArgLysAspLysLysTerArgLeuAlaGlyArgAlaGlyAspArgGlyLeuGlyValGluSerAlaLysGlyProLysValMetVal | stop_gained, disruptive_inframe_insertion | 6/6 | NP_001302420.1 | ||
| MPZ | XM_017001321.3 | c.675+300_675+301insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT | intron_variant | XP_016856810.1 |
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| MPZ | ENST00000533357 | c.*68_*69insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT | 3_prime_UTR_variant | 6/6 | 1 | NM_000530.8 | ENSP00000432943.1 |
Frequencies
GnomAD3 genomes
GnomAD3 genomes
Cov.:
31
GnomAD4 exome Cov.: 13
GnomAD4 exome
Cov.:
13
GnomAD4 genome
GnomAD4 genome
Cov.:
31
ClinVar
Significance: Likely pathogenic
Submissions summary: Pathogenic:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Charcot-Marie-Tooth disease type 1B Pathogenic:1
| Likely pathogenic, criteria provided, single submitter | research | Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine | Sep 17, 2015 | This duplication was identified in a patient with peripheral neuropathy. There is a report in the literature of MPZ duplication in an individual with peripheral neuropathy (PMID:21787890). - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.