Annotation Detail
Information
- Associated Genes
- PRKAG2
- Associated Variants
-
PRKAG2 p.Arg531Leu (p.R531L)
(
ENST00000287878.9,
ENST00000392801.6,
ENST00000418337.6,
ENST00000492843.6,
ENST00000650858.1,
ENST00000651378.1,
ENST00000651764.1,
ENST00000652047.1,
ENST00000652159.1,
ENST00000652321.2 )
PRKAG2 p.Arg531Gln (p.R531Q) ( ENST00000287878.9, ENST00000392801.6, ENST00000418337.6, ENST00000492843.6, ENST00000650858.1, ENST00000651378.1, ENST00000651764.1, ENST00000652047.1, ENST00000652159.1, ENST00000652321.2 )
PRKAG2 p.Arg384Thr (p.R384T) ( ENST00000287878.9, ENST00000392801.6, ENST00000418337.6, ENST00000492843.6, ENST00000650858.1, ENST00000651378.1, ENST00000651764.1, ENST00000652047.1, ENST00000652159.1, ENST00000652321.2 )
PRKAG2 p.Arg531Leu (p.R531L) ( ENST00000287878.9, ENST00000392801.6, ENST00000418337.6, ENST00000492843.6, ENST00000650858.1, ENST00000651378.1, ENST00000651764.1, ENST00000652047.1, ENST00000652159.1, ENST00000652321.2 )
PRKAG2 p.Arg531Gln (p.R531Q) ( ENST00000287878.9, ENST00000392801.6, ENST00000418337.6, ENST00000492843.6, ENST00000650858.1, ENST00000651378.1, ENST00000651764.1, ENST00000652047.1, ENST00000652159.1, ENST00000652321.2 )
PRKAG2 p.Arg384Thr (p.R384T) ( ENST00000287878.9, ENST00000392801.6, ENST00000418337.6, ENST00000492843.6, ENST00000650858.1, ENST00000651378.1, ENST00000651764.1, ENST00000652047.1, ENST00000652159.1, ENST00000652321.2 ) - Associated Disease
- Glycogen Storage Disease of Heart, Lethal Congenital
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- NA
Drugs