Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Val84Leu (p.V84L)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Val84Leu (p.V84L) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Val84Met (p.V84M) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Val84Leu (p.V84L) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Val84Leu (p.V84L) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Val84Met (p.V84M) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Hearing Loss, Mixed Conductive-Sensorineural
- Source Database
- DisGeNET
- Description
- This deletion was observed in trans to a GJB2 mutated allele carrying the p.Val84Met (V84M) mutation and was shown to be associated with hearing loss.
- Pubmed
- 19101659
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0646031655551122
- Year of publication
- 2009
Drugs