ClinVar
|
Risk
|
rs376754645(T;T) |
Alt
|
rs376754645(T;T) |
Reference
|
Rs376754645(C;C) |
Significance |
Other |
Disease |
not specified Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype Scapuloperoneal myopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy Laing distal myopathy Left ventricular noncompaction cardiomyopathy Myosin storage myopathy |
Variation | info |
---|
Gene |
MYH7 |
CLNDBN |
not specified Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype Scapuloperoneal myopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Laing distal myopathy Left ventricular noncompaction cardiomyopathy Myosin storage myopathy |
Reversed |
0 |
HGVS |
NC_000014.8:g.23894554C>T |
CLNSRC |
UniProtKB (protein) |
CLNACC |
RCV000035789.3, RCV000148708.1, RCV000250929.1, RCV000299638.1, RCV000313839.1, RCV000348947.1, RCV000354671.1, RCV000392220.1, RCV000392228.1, |