Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516456
rs397516456
0.710 GeneticVariation BEFREE Seven single nucleotide polymorphisms and haplotypes in MYBPH were investigated for hypertrophy modifying effects in 388 individuals (27 families), in which three unique South African HCM-causing founder mutations (p.R403W and pA797T in β-myosin heavy chain gene (MYH7) and p.R92W in the cardiac troponin T gene (TNNT2)) segregate. 26969327

2016

dbSNP: rs397516456
rs397516456
A 0.710 CausalMutation CLINVAR Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathy. 23494605

2013

dbSNP: rs397516456
rs397516456
A 0.710 CausalMutation CLINVAR Correlation of molecular and functional effects of mutations in cardiac troponin T linked to familial hypertrophic cardiomyopathy: an integrative in silico/in vitro approach. 22334656

2012

dbSNP: rs397516456
rs397516456
A 0.710 CausalMutation CLINVAR Molecular effects of familial hypertrophic cardiomyopathy-related mutations in the TNT1 domain of cTnT. 22579624

2012

dbSNP: rs397516456
rs397516456
A 0.710 CausalMutation CLINVAR [Novel mutations of cardiac troponin T in Chinese patients with hypertrophic cardiomyopathy]. 22321274

2011

dbSNP: rs397516456
rs397516456
A 0.710 CausalMutation CLINVAR [Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil]. 20414521

2010

dbSNP: rs397516456
rs397516456
A 0.710 CausalMutation CLINVAR Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations. 19880069

2009

dbSNP: rs397516456
rs397516456
A 0.710 CausalMutation CLINVAR Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy. 18029407

2008

dbSNP: rs397516456
rs397516456
A 0.710 CausalMutation CLINVAR Long-term follow-up of R403WMYH7 and R92WTNNT2 HCM families: mutations determine left ventricular dimensions but not wall thickness during disease progression. 17612745

2008

dbSNP: rs397516456
rs397516456
A 0.710 CausalMutation CLINVAR Changes in the chemical and dynamic properties of cardiac troponin T cause discrete cardiomyopathies in transgenic mice. 16326803

2005

dbSNP: rs397516456
rs397516456
A 0.710 CausalMutation CLINVAR Phenotypic differences between electrocardiographic and echocardiographic determination of hypertrophic cardiomyopathy in genetically affected subjects. 16115294

2005

dbSNP: rs397516456
rs397516456
A 0.710 CausalMutation CLINVAR Familial hypertrophic cardiomyopathy mutations from different functional regions of troponin T result in different effects on the pH and Ca2+ sensitivity of cardiac muscle contraction. 14722098

2004

dbSNP: rs397516456
rs397516456
A 0.710 CausalMutation CLINVAR Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. 12860912

2003

dbSNP: rs397516456
rs397516456
A 0.710 CausalMutation CLINVAR Autopsy findings in siblings with hypertrophic cardiomyopathy caused by Arg92Trp mutation in the cardiac troponin T gene showing dilated cardiomyopathy-like features. 14640471

2003

dbSNP: rs397516456
rs397516456
A 0.710 CausalMutation CLINVAR Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy. 11968089

2002

dbSNP: rs397516456
rs397516456
A 0.710 CausalMutation CLINVAR Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective. 12084606

2002

dbSNP: rs397516456
rs397516456
A 0.710 CausalMutation CLINVAR Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region. 11606294

2001

dbSNP: rs397516456
rs397516456
A 0.710 CausalMutation CLINVAR Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease. 11560853

2001

dbSNP: rs397516456
rs397516456
A 0.710 CausalMutation CLINVAR Cardiac troponin T Arg92Trp mutation and progression from hypertrophic to dilated cardiomyopathy. 11346248

2001

dbSNP: rs397516456
rs397516456
A 0.710 CausalMutation CLINVAR The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events. 10521296

1999

dbSNP: rs397516456
rs397516456
A 0.710 CausalMutation CLINVAR Sudden death due to troponin T mutations. 9060892

1997

dbSNP: rs397516456
rs397516456
A 0.710 CausalMutation CLINVAR Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene. 8951566

1996