Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Met34Arg (p.M34R)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Met34Thr (p.M34T) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Met34Arg (p.M34R) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Met34Thr (p.M34T) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Sensorineural Hearing Loss (disorder)
- Source Database
- DisGeNET
- Description
- Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.
- Pubmed
- 11134236
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.344722343815082
- Year of publication
- 2001
Drugs