ClinVar
|
Risk
|
rs79474211(T;T) |
Alt
|
rs79474211(T;T) |
Reference
|
Rs79474211(C;C) |
Significance |
Other |
Disease |
Cardiomyopathy not specified PRKAG2 cardiac syndrome Glycogen storage disease of heart Cardiovascular phenotype Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Wolff-Parkinson-White syndrome Wolff-Parkinson-White pattern |
Variation | info |
---|
Gene |
PRKAG2 |
CLNDBN |
Cardiomyopathy not specified PRKAG2 cardiac syndrome Glycogen storage disease of heart, lethal congenital Cardiovascular phenotype Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Wolff-Parkinson-White syndrome Wolff-Parkinson-White pattern |
Reversed |
0 |
HGVS |
NC_000007.13:g.151478406C>T |
CLNSRC |
ClinVar LabCorp University of Washington |
CLNACC |
RCV000030376.1, RCV000038934.2, RCV000148737.1, RCV000229228.3, RCV000247427.1, RCV000314869.1, RCV000369610.1, RCV000490302.1, |