ClinVar
|
Risk
|
rs186964570(A;A) |
Alt
|
rs186964570(A;A) |
Reference
|
Rs186964570(G;G) |
Significance |
Other |
Disease |
not specified Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 Myosin storage myopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy Left ventricular noncompaction cardiomyopathy Laing distal myopathy Scapuloperoneal myopathy |
Variation | info |
---|
Gene |
MYH7 |
CLNDBN |
not specified Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 Myosin storage myopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy Laing distal myopathy Scapuloperoneal myopathy |
Reversed |
0 |
HGVS |
NC_000014.8:g.23902865G>A |
CLNSRC |
UniProtKB (protein) |
CLNACC |
RCV000036003.3, RCV000148713.3, RCV000168831.3, RCV000264317.1, RCV000279740.1, RCV000319538.1, RCV000334846.1, RCV000374158.1, RCV000377499.1, |