Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Arg32Cys (p.R32C)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Arg32Cys (p.R32C) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Rare genetic deafness
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) AND Rare genetic deafness
- ClinVar Allele ID
- 186863
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.94C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-03-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000614720
- ClinVar Disease
- Rare genetic deafness
- Observed Origin Sample
- germline
Drugs