| ClinVar
|
| Risk
|
rs121964857(T;T) |
| Alt
|
rs121964857(T;T) |
| Reference
|
Rs121964857(C;C) |
| Significance |
Other |
| Disease |
Familial hypertrophic cardiomyopathy 2 not specified Primary familial hypertrophic cardiomyopathy Costello syndrome not provided Familial hypertrophic cardiomyopathy 1 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 Cardiovascular phenotype |
| Variation | info |
|---|
| Gene |
TNNT2 |
| CLNDBN |
Familial hypertrophic cardiomyopathy 2 not specified Primary familial hypertrophic cardiomyopathy Costello syndrome not provided Familial hypertrophic cardiomyopathy 1 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 Cardiovascular phenotype |
| Reversed |
1 |
| HGVS |
NC_000001.10:g.201328373G>A |
| CLNSRC |
OMIM Allelic Variant |
| CLNACC |
RCV000013222.23, RCV000036622.4, RCV000148898.1, RCV000157540.1, RCV000159322.5, RCV000162331.1, RCV000203739.3, RCV000248304.1, |