Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Asp179Tyr (p.D179Y)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Asp179Asn (p.D179N) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Asp179Tyr (p.D179Y) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Asp179Asn (p.D179N) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
- Source Database
- DisGeNET
- Description
- A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss.
- Pubmed
- 12786758
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2003
Drugs