Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Gly12Cys (p.G12C)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Gly12Cys (p.G12C) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Nonsyndromic genetic hearing loss
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND Nonsyndromic genetic hearing loss
- ClinVar Allele ID
- 53907
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.34G>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-10-19
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000037839
- ClinVar Disease
- Nonsyndromic genetic hearing loss
- Observed Origin Sample
- germline
Drugs