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, |