Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG p.Trp748Ser (p.W748S)
(
ENST00000442287.6,
ENST00000636937.2,
ENST00000268124.11 )
POLG p.Gln497His (p.Q497H) ( ENST00000268124.11, ENST00000636937.2, ENST00000442287.6 )
POLG p.Gln497= (p.Q497=) ( ENST00000442287.6, ENST00000268124.11, ENST00000636937.2 )
POLG p.Ala467Thr (p.A467T) ( ENST00000268124.11, ENST00000636937.2, ENST00000442287.6 )
POLG p.Trp748Ser (p.W748S) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Gln497His (p.Q497H) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Gln497= (p.Q497=) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Ala467Thr (p.A467T) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- Spinocerebellar ataxia with epilepsy
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.120542883744161
- Year of publication
- NA
Drugs