Gene: TNNT2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503513
rs727503513
TNNT2
A 0.700 GeneticVariation CLINVAR A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy. 10525521

1999
dbSNP: rs141754300
rs141754300
TNNT2
0.010 GeneticVariation BEFREE We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.C23T] and p.D145E [c.C435A]). 27604170

2016
dbSNP: rs200754249
rs200754249
TNNT2
0.010 GeneticVariation BEFREE We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.C23T] and p.D145E [c.C435A]). 27604170

2016
dbSNP: rs970498944
rs970498944
TNNT2
0.010 GeneticVariation BEFREE We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.C23T] and p.D145E [c.C435A]). 27604170

2016