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: Deafness, digenic, GJB2/GJB6
Source Database: ClinVar
Description: NM_004004.6(GJB2):c.35del (p.Gly12fs) AND Deafness, digenic, GJB2/GJB6
ClinVar Allele ID: 32043
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2012-10-05
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000018528
ClinVar Disease: Deafness, digenic, GJB2/GJB6
Observed Origin Sample: germline
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