Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Trp3Ter (p.W3*)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Trp3Ter (p.W3*) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Rare genetic deafness
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) AND Rare genetic deafness
- ClinVar Allele ID
- 53934
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.9G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2008-10-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000037874
- ClinVar Disease
- Rare genetic deafness
- Observed Origin Sample
- germline
Drugs