Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Asp179Asn (p.D179N)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Asp179Asn (p.D179N) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Autosomal dominant nonsyndromic hearing loss 3A
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.535G>A (p.Asp179Asn) AND Autosomal dominant nonsyndromic hearing loss 3A
- ClinVar Allele ID
- 32065
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.535G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2003-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018553
- ClinVar Disease
- Autosomal dominant nonsyndromic hearing loss 3A
- Observed Origin Sample
- germline
- Pubmed
- 12786758
Drugs