Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Val37Phe (p.V37F)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Val37Ile (p.V37I) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Val37Phe (p.V37F) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Val37Ile (p.V37I) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Hearing Loss, Mixed Conductive-Sensorineural
- Source Database
- DisGeNET
- Description
- These data provide new information about carrier rates for GJB2-based hearing loss in various ethnic groups and contribute to evaluation of the pathogenicity of the controversial V37I variant.
- Pubmed
- 17041943
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0646031655551122
- Year of publication
- 2006
Drugs