Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG p.Tyr955Cys (p.Y955C)
(
ENST00000636937.2,
ENST00000268124.11,
ENST00000442287.6 )
POLG p.Tyr955Cys (p.Y955C) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- chronic progressive external ophthalmoplegia
- Source Database
- DisGeNET
- Description
- The Y955C substitution in POLG leads to autosomal dominant progressive external ophthalmoplegia (PEO) with other severe phenotypes.
- Pubmed
- 17725985
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.158406294920018
- Year of publication
- 2007
Drugs