| 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, |