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 )
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 ) - Associated Disease
- ophthalmoplegia
- Source Database
- DisGeNET
- Description
- We previously described a unique syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia in two unrelated families associated with an R445H mutation in OPA1.
- Pubmed
- 16158427
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00599158422909495
- Year of publication
- 2005
Drugs