| ClinVar
|
| Risk
|
rs141121678(A;A) rs141121678(T;T) |
| Alt
|
rs141121678(A;A) rs141121678(T;T) |
| Reference
|
Rs141121678(C;C) |
| Significance |
Probable-Pathogenic |
| Disease |
not specified Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 |
| Variation | info |
|---|
| Gene |
TNNT2 |
| CLNDBN |
not specified Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 |
| Reversed |
0 |
| HGVS |
NC_000001.10:g.201328348C>T |
| CLNSRC |
Children's Hospital of Eastern Ontario |
| CLNACC |
RCV000036626.3, RCV000148899.2, RCV000223838.1, RCV000245252.1, RCV000459071.1, |