Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG p.Ala957Ser (p.A957S)
(
ENST00000442287.6,
ENST00000268124.11,
ENST00000636937.2 )
POLG p.Tyr955Cys (p.Y955C) ( ENST00000636937.2, ENST00000268124.11, ENST00000442287.6 )
POLG p.Ser511Asn (p.S511N) ( ENST00000442287.6, ENST00000636937.2, ENST00000268124.11 )
POLG p.Ala467Thr (p.A467T) ( ENST00000268124.11, ENST00000636937.2, ENST00000442287.6 )
POLG p.Ala957Ser (p.A957S) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Tyr955Cys (p.Y955C) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Ser511Asn (p.S511N) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Ala467Thr (p.A467T) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs