Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Gly12Val (p.G12V)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Gly12Asp (p.G12D) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gly12Val (p.G12V) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly12Asp (p.G12D) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Hearing Loss, Mixed Conductive-Sensorineural
- Source Database
- DisGeNET
- Description
- Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss.
- Pubmed
- 21056478
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0646031655551122
- Year of publication
- 2011
Drugs