Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Ser19Thr (p.S19T)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Ser19Thr (p.S19T) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Nonsyndromic genetic hearing loss
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) AND Nonsyndromic genetic hearing loss
- ClinVar Allele ID
- 34241
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.56G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-03
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001257035
- ClinVar Disease
- Nonsyndromic genetic hearing loss
- Observed Origin Sample
- germline
Drugs