GeneBe

1-161305807-G-GACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGGGCAACTGTAGACCTTTTTGTTCTACAGGAGGGGGAGGTGGCAACCAAACAAAGTTCCATTGTCTGACCAACGCTGGGGGGCTCATGCCACCCCTACTCCCACCCCAACTGTCCTGAATCTCTCACCTCAGCATGCAATACCATGTACTTACCTTCTGGAACTTCCACCTTAGAACCTTCTTGGGAATCCCCCTTGTTTAACAAGGGAGATAATTCACTGGCTCTAACTTCTATTCCTCCTGTTACAATATCAACCATTGCCCTTCTCAGCTGTGCTCAATGGTTCTATGAGTGGAACAAGTGTTGAGACACAACTCTCCCTCTTCCTTATACATCAAGATTCCTTCCCCCTATTTCCCTCACTATGCCCTTCTCCAACTCTCTATCTTTAACATTTTCTCAGGGTACCCCCAAATAGCCCAGTACAACCCAGAAGAGTCTAGGGCTCAAGCAGCTGACAGCAGAGAACCCTGGGCATTCTGGCCAGCCCCCTTTCCCTTGATGTCCTCCCCACCACCCCCACTTGCCTATGGCTCACTCATTGCACTAGGATTCAGGGCAGTTCAGAGAAGGGAAGGGGCCATTCCAATAATCCTGCTTTGACCTCTTACTCACCCAACATCTGCCAGGGGGCAAGGAAAGGGCTGGTCAGCTTATGAAGGAAGACAGCTTTAGAGGGATAAGATCCCAGAATCTCATAGAACCTCACTCCATTCACCCACACAACAGGTGAGGAGCCATAGAGAGACAAAAAATCTGAGGAGCTGAGACCACAAACCTGGGCTCCTTACTTAGATCGCACTCTCTTTTTCCTTCTGGGAAACTAAGGTTAAGGCACCTCCTGCACTGCTAGGGGACGAGTGGGAACCAAACCCAGGTGTTTGAGCCTATTTCTTTATGTAATCTAACACTGCTTCCCACCAGGCTGTTAGCATGGCTCTGGGGGCATGCTACTATTTCCAACCTGGGTCCAGCCATGGCCACCACTCAGGGAAGCTTGCTACACTCTCTTTTACCCTTTCTTTTAAAATAAAACCTCTACTTCCTCCCTCTAAATGCATATTTTTTTCTTTTCATATATATATATATATATTTTTTTTTTTTTTGAATTTTACAGATGGAGTCTGGTTATGTTGTCCAGGCTGGTCTCCAACTCCTGGGGCTCAAATAATTATCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCGCATATTTTTTCTTTCTGAATATAATGTCACCTTCCTGCTCCTGCTTGTTCTTTCTTTGGTTGCAGTGGGGAGTGCAGCAAAGGCTGTGGGGATTGCTGAGAGACACCTGAGTCCCAAGACTCCCAGAGTAGAGTGGCTCCACTTACCCAAAGAAGAGAAGAGCAGCACAGCCAGGATAGGGCTGGGGCTGGATGAGGGAGCCCCAGGAGCCATAGCTGGGGCAGGGGCAGGGGCCCGGAGCATCTGTGGGGTTGAGAAAGTGGGGGACCAGGAACTGAACGGGGGGTTCCT

Position:

Variant summary

Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP5_Moderate

The NM_000530.8(MPZ):​c.*68_*69insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT variant causes a 3 prime UTR 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_000530.8 3_prime_UTR

Scores

Not classified

Clinical Significance

Likely pathogenic criteria provided, single submitter P:1

Conservation

PhyloP100: 4.14
Variant links:
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 Uncertain_significance. Variant got 4 ACMG points.

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
MPZNM_000530.8 linkuse as main transcriptc.*68_*69insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT 3_prime_UTR_variant 6/6 ENST00000533357.5 NP_000521.2
MPZNM_001315491.2 linkuse as main transcriptc.815_816insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT p.Ile272_Glu273insGlyThrProArgSerValProGlyProProLeuSerGlnProHisArgCysSerGlyProLeuProLeuProGlnLeuTrpLeuLeuGlyLeuProHisProAlaProAlaLeuSerTrpLeuCysCysSerSerLeuLeuTrpValSerGlyAlaThrLeuLeuTrpGluSerTrpAspSerGlyValSerGlnGlnSerProGlnProLeuLeuHisSerProLeuGlnProLysLysGluGlnAlaGlyAlaGlyArgTer stop_gained, inframe_insertion 6/6 NP_001302420.1
MPZXM_017001321.3 linkuse as main transcriptc.675+300_675+301insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT intron_variant XP_016856810.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
MPZENST00000533357.5 linkuse as main transcriptc.*68_*69insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT 3_prime_UTR_variant 6/61 NM_000530.8 ENSP00000432943 P1P25189-1

Frequencies

GnomAD3 genomes
Cov.:
31
GnomAD4 exome
Cov.:
13
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 submitterresearchLupski Lab, Baylor-Hopkins CMG, Baylor College of MedicineSep 17, 2015This 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: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr1-161275597; API