Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG MUTATION
POLG MUTATION
POLG p.Gln1236His (p.Q1236H), FANCI c.*304C>A ( ENST00000696718.1, ENST00000442287.6, ENST00000268124.11, ENST00000636937.2, ENST00000696719.1, ENST00000696717.1, ENST00000676003.1, ENST00000300027.12, ENST00000310775.12 )
POLG p.Glu1143Gly (p.E1143G) ( ENST00000442287.6, ENST00000636937.2, ENST00000268124.11 )
POLG p.Trp748Ser (p.W748S) ( ENST00000442287.6, ENST00000636937.2, ENST00000268124.11 )
POLG p.Gln1236His (p.Q1236H), FANCI c.*304C>A ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2, ENST00000300027.12, ENST00000310775.12, ENST00000676003.1, ENST00000696717.1, ENST00000696718.1, ENST00000696719.1 )
POLG p.Glu1143Gly (p.E1143G) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Trp748Ser (p.W748S) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- Liver failure
- Source Database
- DisGeNET
- Description
- A heterozygous POLG1 p.Q1236H mutation was related to valproate-induced liver failure without mtDNA depletion, whereas patients homozygous for POLG1 p.W748S and p.E1143G mutations had mtDNA depletion.
- Pubmed
- 25065347
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2014
Drugs