Annotation Detail
Information
- Associated Genes
- OPA1
- Associated Variants
-
OPA1 p.Arg482His (p.R482H)
(
ENST00000361510.8,
ENST00000361908.8,
ENST00000361828.7,
ENST00000361150.6,
ENST00000361715.6,
ENST00000392436.7,
ENST00000392437.6,
ENST00000643329.1,
ENST00000645553.1,
ENST00000646793.1 )
WFS1 p.Ala684Val (p.A684V) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
OPA1 p.Arg482His (p.R482H) ( ENST00000361150.6, ENST00000361510.8, ENST00000361715.6, ENST00000361828.7, ENST00000361908.8, ENST00000392436.7, ENST00000392437.6, ENST00000643329.1, ENST00000645553.1, ENST00000646793.1 )
WFS1 p.Ala684Val (p.A684V) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 ) - Associated Disease
- Sensorineural Hearing Loss (disorder)
- Source Database
- DisGeNET
- Description
- Importantly, our data provide the first evidence that a single, recurrent mutation in WFS1, p.A684V, may be a common cause of ADOA and SNHL, similar to the role played by the p.R445H mutation in OPA1.
- Pubmed
- 21538838
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00408155960286869
- Year of publication
- 2011
Drugs