| 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, |