Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG p.Trp748Ser (p.W748S)
(
ENST00000442287.6,
ENST00000636937.2,
ENST00000268124.11 )
POLG p.Trp748Ser (p.W748S) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- Mitochondrial Diseases
- Source Database
- DisGeNET
- Description
- Mitochondrial disorder was clinically suspected and a homozygous c.2243G>C mutation (p.Trp748Ser) was discovered in the POLG1 gene.
- Pubmed
- 23248042
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.255763491623986
- Year of publication
- 2012
Drugs