Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Ser113Arg (p.S113R)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Ser113Arg (p.S113R) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Nonsyndromic genetic hearing loss
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) AND Nonsyndromic genetic hearing loss
- ClinVar Allele ID
- 34237
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.339T>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2024-01-17
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001004771
- ClinVar Disease
- Nonsyndromic genetic hearing loss
- Observed Origin Sample
- germline
Drugs