Variant: rs397516484 

    present in Gene: TNNT2
    present in Chromosome: 1
    Position on Chromosome: 201359244
    Alleles of this Variant: C/G;T

rs397516484 in TNNT2 gene and CARDIOMYOPATHY, DILATED, 1D (disorder) PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

PMID 15958377 2005 Low prevalence of cardiac troponin T mutations in a Greek hypertrophic cardiomyopathy cohort.

PMID 12974739 2003 Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

PMID 20057144 2010 Defective dynamic properties of human cardiac troponin mutations.

PMID 24793961 2014 Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.

PMID 23233322 2013 Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

rs397516484 in TNNT2 gene and CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) PMID 15958377 2005 Low prevalence of cardiac troponin T mutations in a Greek hypertrophic cardiomyopathy cohort.

PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

PMID 23233322 2013 Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

PMID 12974739 2003 Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

PMID 24793961 2014 Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.

PMID 20057144 2010 Defective dynamic properties of human cardiac troponin mutations.

rs397516484 in TNNT2 gene and Cardiomyopathy, Familial Hypertrophic, 1 (disorder) PMID 15958377 2005 Low prevalence of cardiac troponin T mutations in a Greek hypertrophic cardiomyopathy cohort.

PMID 12860912 2003 Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.

PMID 12974739 2003 Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

PMID 20031601 2009 Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy.

PMID 25611685 2015 Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

PMID 9154300 1997 Prognostic significance of beta-myosin heavy chain mutations is reflective of their hypertrophic expressivity in patients with hypertrophic cardiomyopathy.

PMID 20057144 2010 Defective dynamic properties of human cardiac troponin mutations.

PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

rs397516484 in TNNT2 gene and Cardiomyopathy, Familial Hypertrophic, 2 PMID 12974739 2003 Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

PMID 15563892 2005 Mutations profile in Chinese patients with hypertrophic cardiomyopathy.

PMID 21267010 2011 Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

PMID 10525521 1999 A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy.

PMID 15958377 2005 Low prevalence of cardiac troponin T mutations in a Greek hypertrophic cardiomyopathy cohort.

PMID 8989109 1996 Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy.

PMID 9060892 1997 Sudden death due to troponin T mutations.

PMID 20057144 2010 Defective dynamic properties of human cardiac troponin mutations.

PMID 9482583 1998 A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy.

PMID 8205619 1994 Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.

PMID 7898523 1995 Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.

PMID 9140840 1997 Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy.

PMID 11034944 2000 Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy.

PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

PMID 16199542 2005 Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

PMID 23233322 2013 Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

PMID 24793961 2014 Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.

PMID 21846512 2012 Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.