Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Leu79CysfsTer3 (p.L79Cfs*3)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Leu79CysfsTer3 (p.L79Cfs*3) ( ENST00000382844.2, ENST00000382848.5 )
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
- A total of 199 (19.6%) babies were found to have at least 1 mutated allele on the NGS for deafness, 11 (1.1%) of whom were homozygous for GJB2 p.V37I, 6 (0.6%) compound heterozygous for GJB2 p.V37I and c.235delC, and 1 (0.1%) homoplasmic for m.1555A>G, who may potentially have hearing loss.
- Pubmed
- 21811586
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0646031655551122
- Year of publication
- 2011
Drugs