Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG p.Glu1143Gly (p.E1143G)
(
ENST00000442287.6,
ENST00000636937.2,
ENST00000268124.11 )
POLG p.Trp748Ser (p.W748S) ( ENST00000442287.6, ENST00000636937.2, ENST00000268124.11 )
POLG p.Glu1143Gly (p.E1143G) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Trp748Ser (p.W748S) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- Ataxia Neuropathy Spectrum
- Source Database
- DisGeNET
- Description
- The W748S mutation in POLG is the most common mutation in ataxia-neuropathy spectrum disorders and is generally found in cis with the common E1143G polymorphism.
- Pubmed
- 17088268
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00298586059288334
- Year of publication
- 2006
Drugs