Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Val198GlnfsTer4 (p.V198Qfs*4)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Val198GlnfsTer4 (p.V198Qfs*4) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Autosomal recessive nonsyndromic hearing loss 1A
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer) AND Autosomal recessive nonsyndromic hearing loss 1A
- ClinVar Allele ID
- 53928
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-06-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002271384
- ClinVar Disease
- Autosomal recessive nonsyndromic hearing loss 1A
- Observed Origin Sample
- germline
Drugs