Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Ala40Glu (p.A40E)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Ala40Glu (p.A40E) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Rare genetic deafness
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.119C>A (p.Ala40Glu) AND Rare genetic deafness
- ClinVar Allele ID
- 53890
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.119C>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2011-03-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000037813
- ClinVar Disease
- Rare genetic deafness
- Observed Origin Sample
- germline
Drugs