Basic information Region (hg38): 3:20174244-21168896
Previous symbols: [
"SGOL1-AS1"
]
Links ENSG00000231304 ∙
∙
∙ HGNC:41081
∙
∙
∙ GenCC
∙ jax
∙ Sfari
∙ GnomAD
∙ Pubmed ∙ ClinVar Phenotypes GenCC Source: genCC
No genCC data.
ClinVar This is a list of variants' phenotypes submitted to ClinVar and linked to the SGO1-AS1 gene.
not provided (6 variants) Chronic atrial and intestinal dysrhythmia (2 variants) Normal pregnancy (1 variants) Inborn genetic diseases (1 variants) Variants pathogenicity by type Statistics on ClinVar variants can assist in determining whether a specific variant type in the SGO1-AS1 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source
variants.
Warning: slight differences between displayed counts and the number of variants in
ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our
variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign
variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum synonymous 0 missense 0 nonsense 0 start loss 0 frameshift 0 inframe indel 0 splice donor/acceptor (+/-2bp) 0 splice region ?
0 non coding ?
1 2 1 4 8 Total 1 0 2 1 4
Highest pathogenic variant AF is 0.000138
Variants in SGO1-AS1 This is a list of pathogenic ClinVar variants found in the SGO1-AS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position Type Phenotype Significance ClinVar 3-20174353-G-C Chronic atrial and intestinal dysrhythmia Uncertain significance (Dec 06, 2021) 2435915 3-20174380-G-A SGO1-related disorder Likely benign (Mar 21, 2022) 3038529 3-20174566-T-G SGO1-related disorder Benign (Dec 31, 2019) 791914 3-20174605-T-C Conflicting classifications of pathogenicity (Jun 05, 2024) 787255 3-20174877-C-T Benign (Dec 31, 2019) 714173 3-20174992-G-A not specified Uncertain significance (Jun 11, 2021) 2281372 3-20175019-A-G Benign (Dec 31, 2019) 382303 3-20175027-T-A SGO1-related disorder Benign (Oct 17, 2019) 3059284 3-20183961-T-C Chronic atrial and intestinal dysrhythmia • SGO1-related disorder Pathogenic (Jan 11, 2023) 162627 3-20183998-G-T SGO1-related disorder Benign (Dec 31, 2019) 760207 3-20535979-A-ACCTGGTCTATTTCTAGTCCTGCAGCAATATATGTATTTTCATGATAAAGTGCTATATTAAATGTCTCTGGGGTTTCAAAGACTTGAATTAAAAAAAAAAAAAACTTCTAGAAAAGGATATTCTGAAATGCCAATAGATAAAATTTAAAATTAGAAATTAATATTATTTAATTTAAATAATTAGAGAATGCCATGGCAATTCTCAAAGCCTTCTTTTGTTTGAGGCAAATATTGAGCAAAATATTTTTATGTTATAAGAAAATGTTATCCAGTTATGCTAGTTTTTTTTTTTTTTTTGATATGGAGTCGTGCTCTGTCACCCAGACTGGAGTACAACAGTGCCGTCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTGAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACACACGCCCACAACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATGCACCTGCCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACCGTGCCCTGCTGCTAGTGTTTTTTTTAGTAGTTATTTCAGTGAGAAAATTATGATAACACCAACATCAGTGGAAATGCATTGGTTTGTATAAGGTGTTTAATTTTTGTCCTGGTCATTTCACAATGCCTTATGGTCATTTTTATATTTACATAAATTTAAAATTTTGTAAATTGTTTTAATATAATTATTGTAATGTAAATTGTTATATATTTAATAGTTCATGCCTCCCCAAGGAATGGATGAAGGAAGTCTCAGAGGTCTATTAAATTATTTGAATTCTTATGCAGTTTAATATCCATCTTAATGTAATATAATATTTTAAAAGAATTCTACATTTGTATAATGTAGAATTGTGTAGATTTCCTTTAAAATGTATGTAAAACATTTCTTGAGTTATAAATATTTCTTTCAATCCAAATATTCCATGTGTTTAGAATATAACATTACTTACTTTTGTTGGTATAATTGAATTATTCTGATGATCAAAATCACATGTGTATGTGAAGTTATTATTTGTGGTAGTTTTAAAACATAGTTGTAAGTTCTTTGATACTTCTCCCATTGAGAGCTGGCAGCTAAGTCCTCTCCCCTTGAATCTGGGTCAGCCTGTGACTTCTTCCATTAATACAGTGACCTGGAAGTTATGTTATGTGATTTCTAATGCTGGGTCATAACAAACCGTGAAGCTCTTGTTGTCTGCTGAAATACCTGCCTTGGTGCTCTTAGGCATCATGTAAGAATATCATCAATACCTTGAGACTTCCATGCTCTGAAGGAGCCCGAGCCATGTAAAAAGGCCAGATAAAGACTGACGTTGGAATTAGCTCAGTCCTGCCTTCAGTACATTTTTGCTTAGTCACCAGACATGTGAAGGAAGTCTGTCTATCACGTTAGCCCCCAGTCATCCTAGTCACCCCCAGTCATTGAACTCTTCCCAGCTGAGGAATCAAATGATGTAACTATCAGATGATAGCCATCCCTGCTATGCCTTACACTGAATTCTTGACCCCAAAATTCATGAGCATAGAAAATTGATTGCTGCTTTATGCTACTACTTTTGGATTGGTATTTGACACAGCAAAATTTATTGTAATTTTTCTGGATGATGTATATATTTACATTCTTCCATTATTGCATGTACTTCTAAAATACTCAGACCAGCAAATAAATTAAACACATACAATAATATGAAACAGCAGAGTGTTGCTGATTATGCAATATAAACCATTTCTAAGTTTACCTTTTCTTTTTATAAAAACATATATTCCTAATATATCCAGGGTATAAAAAATTGCATTAAAATATTTAGTGTCTCTCTAGATGTTTATAGTATTTAGGGAGCATGTGACAGTCTTTTATAGCACTATAAAAAGTGTGTCAGTCATTTCCAAACTTTTTTGAATAGGCATCCACCAGTGTATTCATGCACAAATTCACAAAGACAAAAAAATAAAAGAACGAGATGAAAACTGAATAGAAATAGAAATTTTCAAAATTTTGCTTGATGCCACAATTAAATGTCTTGCCAACCTGTCAAAGTACCCACATCTTACTCTAAAGATCACTGAACTTAACAGTGGATAAAAAAGAATATCCAAATATTTTTGAAATGGTACAAAAATGTAAGTTAACTATTTGGGCTCATCACCAGTTTCATCCTCTCACACTTATATTGACTTTTGTGATAATCACATCCATTATTTTACGAACTTAGCCTTCAAGAGAGAATAATGAATGGATCATTGACTGAACTGCAGTCAATAGGCTATTATAATTTCCCTTAATACAGCAATATTGAAGAGTCCCAGTTTGTTTGAAAGCTTACAGTTGCTGAACAACTATAAAAAATGAATATGCATTATAATGAAGACACTGAGAAAACATTCTGAAAAGTTTAGTAATTAGAAAGAAAGAGCAAAAAGTCACAAAACAAGAAAACTATTTTCAAGGTTAAGTTGTTTTAGAATTTGGCTAAGTTTGTGATATATGTTTATGAGGTGCAAATTTGATTTCCAATCCAGCCTACATTTACTTCATGTTTACTGTATGCTAGATATACTGAATGCCTTCTCTCAGATATTATTTAAACTGCCAGCCTCAGATACCTCTAATCTTTCCTATTCAAAATCATTTATATTGGGAATTTTTAAAAAATAGATGAAATGAGAGAGATATATTACATTTTAAGGAAATCATGCTATATGATAAAGGTCAGAAAATGTGGCCTGCCTATTTGTTCTGTCAATAAAGTTTTACTGAAACACAACTCATTTGTTTACATATTGTCTTGCTCTTGTGCTACAACCGTAGAGGTGAGTAGTTGTGTTAGAGACTATATGGCCTGGAAAGCTTACAATATATACAATCTGGTTCATTATAGAAAAAACTCGCTGGACCCTGATTTAAGAGATATGCTAAACCAACTTCTTTACTTCACTACAGTTTGCTAGCAGTCAGGACAGAATGCTATTTCATAGTGGGTGGGGTGGCTCAAGTGGTTTGTAAAGAAAATTAGTGCCTTTCACCTAGAAAGTGATACTTTAAATTGTCACTGATTGGCATTATTAACCTAGTCAAGCAAATTAGTACTTCACACTTGAGATAAATCAGGTTGGAAAAATTAAAAAAAATAACCTGTGAGATTATGAAATAGTGTACATTTAAAACATGTTCACTATTGGGTTACTGTAACCACCCAATGGGTTGGTTCACCTGGCCTGCTGCCTAGATGTTACCAGTGGAAGGTACCAGGGTTACTGGTGGTGAATCTGTATGGGTCTGCAGCAACTTCAATTCTTGCCTCCTCAGAAGAAATGATTCAACTGAGAAGCATAAGGCAGGAAAAGGGACTGAGGCAAGTTTCAGAGCAGAAGTTGAAGTTTATTTAAAAAGGCTTTAGAATAGGAAAGAAAGGAAAGTACACGTGGAAAAAACCTGAGTAGGCACATGAAGGTCAAGTGCAGTGTTTAACCTTGATCCTAGGACTTTATAGGCTGGCCCTTTCCAGTGATTCTTCCCTTAGGGTGCGTTGCCTGCTTGGCAGGGCCTTCCTTGGGAATTGAGCACATGCATTGTATTGAGGAAGTTGTACGCATCCCCATCTGATGCTTTCTCCCCTTTTCTAGTGGGGTGCCCCTAGAAGGTCGTACTATGCCATTTTGTCTCCTAATGCATATGCCCAAGATGTTGCTTCTCCTTGGCATCTGCGTTCAGTTAACATTTTACTGCAACAGGTGTGGACAATTAGGAAATGGCCTCCCCCTGGCGCCAGCTGCCAGTTTATCACTTTTAGAGAGACAATGCAATCTTTGTCAAACCATAACCTGACTTTCCTAGTGGGTCGGGGAGCCCCCTCTCCTGCCCTGCTCATGCCTGTCTAATTACCTGTAACATAGACAGATCTGATTTATCAAGATGGGGGAATCGCAATGGAGAAAGAGTAATTCACGCAGAGCTGGCTGTGCAGGAGACCAGAGTTTTATTATTATTCAAATCAGTTTCTCTGAGAATTTGGGGATTGGAGTTTTCAAGGATAATTTGGCGGGTAGGTGTTTGGGAAGAGGGGAGTGCTGATTGTTCAGGTTGGAGATGGAATCACAGGGATCAAAGTGAGGTTTTTTTTGCTGTCTTCTGTTCCCGGATGGGATCACGGAGCTGGTTGAGCCAGATTAGCAGTCTGGGTAATGTCAGCTGATCCATGGAGTGCAGGGTCTGCAAAACATCTCAAGCACTAATCTTAGATTTTGCAATATATAGTAATGTTATCCCCAGGAGCAACCTGGGGAGGTTCAGACTCTTGCAGCCAGAGGCTGCATGACCCCTAGACTGTCATTTCTAATCTTGTAGCTAATTTGTTAGTCCTGCAAAGGAAGACTGATCCCCAGGCAAGAAGGGTGTCTTTTTGGGAAAGGACTATTATCAATTTTGTTTCAAGTGATAAACTAAATTCCTTCCCAAGGTTAGTTCAGCCTATGCCCAGGAATGAACAAGGCCAGCTTAAAGGTTAGAAGCAAGATGGAGTCAGTTGTCTGTCCCTTTTACTGTCATAATTTCCTCAGTTATAATTTTTGGAAAGGTGGTTTCAGTACTTAGAATTTAGAGCCATTCAGCATCTTTCAAATGAGTGTAGAGAGTAATTTCTTTATCTCTCTGGGGAAATACCTTTGATTTTATCATTTGCCCAGGTCTTTTTGGCTAGTGTTACCCTGGCTTGTGTGGCTATGCGTGTTGGGGCTAGAGTAACAGCACTGGTGGGCTGAGTTACCAGGAGATAGAATGTGTTAGGCTGGGCTGTGTTTTGGTGTGGCTTTGATCTGAAACTATGTATGAAGACTTGAGCCAAGGTGAATATCAGAGGAATAGCATTAATCTATGAATTCTAAGACATATTTATATAAAGGAGGTTATGGTAGAATTCAGAAGAGGAAATAGGACGATCTTAAGAAATGGATTTAGTGCCTGACTAAATGAAATGAAATACTTCTGGATGACACAACTCAGGGGCCCTGGTGGCTTCCCTTTTTGGGGAATTGGTGAAAGGTGTGTGTCAGAATGGCTTAGCCGTTTCATTATTTTTCTTCCAAGTCAGGAAATCAGCCAGTTCCATTAGTTGTTGCTAATAAAGCTGTGCTGGGACAGATTGCACGTACCTACCCACCCAGTCCTACAGCTTTATTTATTTCTATCATTCATTGATGGTGGTGTTAAATGGAGAAGCCCATCAGATAATGCCTGGAACAGAGCATCTACTCAGGATATGCTCACTAAATGAATTAAAATAATTTAACATTAGATATTCAGTGTGAGCATAATTGAACAGGTTTTCCTTCAGTTACTGTCACAAAAGAATGGCATCATGTAAATGTAAAATACAAATACATATAAATATAAAATGAATTAATCATCTAGTTTTCCACTTACTAGATTATTCCAGTCCAGTTTAATTACAGGCTGTTTTCATGCCTACTCTGTTCTGCAGATAATCAAATCACGTATTTTTTCTAAAATGTAATTTTTTATAGCATTAGTTCAGCAAAGCATGATGGAGAGAATAATAAGCCTTGAAAACCAGTTGCTATCTTACTTTTTACCTACTAGAGTTAGTCCTCTCCTAACACACAGAGCCATGCTTTCTGCAAAGAAAATGTTGATTTCTTCTGAATACTACTTCCTTCCCCAACACGTGCAAGTATTTTTCTGTTCTAAGTGAACATATTTTCTCCCTTGCGGGACAGACAGTGGAGAAGTTCAAAAAGGCAAGCACTGTCTTGTGCTTTCCTGAGGCATGGGTAGAGTCCACTATCATTCAGCTAGCCTGACTCCCCAAACTCCAGTATCTTTTATCTCTTTTATCATTTTGTATTGGTGTCTTTCTGCTTACTGGTGTATTGGAAATATTTTTTAAAAGCCAAGCAAAATCTCTATCTGCATTATTCTTTTAAGATAAATGGATTAGGCATGGCTAATATTTAATATACAGATGGACATCTGATGCCATTATTCAGTCTGCCTGTTGGGCTTTTAAGGCAAGGCTATATACCTCCCAAGAAGAATGAAGATCTTTCTTCCCCAAGATCAAAGACACTAAATCCCAGACCATAGAATGTACAGTATCAGGAAACCCTACCTAGTAATTT Normal pregnancy not provided (-) 156841
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GnomAD Source: gnomAD
dbNSFP Source: dbNSFP