ClinVar
|
Risk
|
rs529700838(A;A) rs529700838(C;C) rs529700838(T;T) |
Alt
|
rs529700838(A;A) rs529700838(C;C) rs529700838(T;T) |
Reference
|
Rs529700838(G;G) |
Significance |
Probable-Pathogenic |
Disease |
not specified Hypertrophic cardiomyopathy Dilated Cardiomyopathy Laing distal myopathy Scapuloperoneal myopathy Left ventricular noncompaction cardiomyopathy Myosin storage myopathy not provided |
Variation | info |
---|
Gene |
MYH7 MIR208B |
CLNDBN |
not specified Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Laing distal myopathy Scapuloperoneal myopathy Left ventricular noncompaction cardiomyopathy Myosin storage myopathy not provided |
Reversed |
0 |
HGVS |
NC_000014.8:g.23889159G>A; NC_000014.8:g.23889159G>C |
CLNSRC |
|
CLNACC |
RCV000126995.2, RCV000233427.2, RCV000265099.1, RCV000301315.1, RCV000305006.1, RCV000353951.1, RCV000362075.1, RCV000480443.1, |