ClinVar
|
Risk
|
rs145532615(G;G) |
Alt
|
rs145532615(G;G) |
Reference
|
Rs145532615(A;A) |
Significance |
Other |
Disease |
not specified Increased left ventricular wall thickness Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Cardiovascular phenotype Scapuloperoneal myopathy Left ventricular noncompaction cardiomyopathy Laing distal myopathy Dilated Cardiomyopathy Myosin storage myopathy |
Variation | info |
---|
Gene |
MYH7 |
CLNDBN |
not specified Increased left ventricular wall thickness Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Cardiovascular phenotype Scapuloperoneal myopathy Left ventricular noncompaction cardiomyopathy Laing distal myopathy Dilated Cardiomyopathy, Dominant Myosin storage myopathy |
Reversed |
0 |
HGVS |
NC_000014.8:g.23892910A>G |
CLNSRC |
Children's Hospital of Eastern Ontario |
CLNACC |
RCV000035834.5, RCV000148698.2, RCV000168882.2, RCV000199809.4, RCV000247539.1, RCV000279750.1, RCV000292823.1, RCV000334844.1, RCV000352353.1, RCV000401402.1, |