Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Cys202Phe (p.C202F)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Cys202Phe (p.C202F) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Hearing Loss, Mixed Conductive-Sensorineural
- Source Database
- DisGeNET
- Description
- A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.
- Pubmed
- 10807696
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0646031655551122
- Year of publication
- 2000
Drugs