Annotation Detail

Information

Associated Genes: GJB2
Associated Variants: GJB2 p.Gly12ValfsTer2 (p.G12Vfs*2) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gly12ValfsTer2 (p.G12Vfs*2) ( ENST00000382844.2, ENST00000382848.5 )
Associated Disease: Autosomal recessive nonsyndromic hearing loss 1A
Source Database: ClinVar
Description: NM_004004.6(GJB2):c.35del (p.Gly12fs) AND Autosomal recessive nonsyndromic hearing loss 1A
ClinVar Allele ID: 32043
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2024-03-26
Clinical Significance Review Status: criteria provided, multiple submitters, no conflicts
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000018527
ClinVar Disease: Autosomal recessive nonsyndromic hearing loss 1A
Observed Origin Sample: germline
Observed Origin Sample: inherited
Observed Origin Sample: biparental
Observed Origin Sample: unknown
Observed Origin Sample: maternal
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Drugs