Variant: rs977277400 

    present in Gene: MYBPC3
    present in Chromosome: 11
    Position on Chromosome: 47336012
    Alleles of this Variant: C/G

rs977277400 in MYBPC3 gene and Muscle hypotonia PMID 7493025 1995 Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.

PMID 23840593 2013 Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.

PMID 18533079 2008 Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

PMID 22464770 2012 Genetic testing for dilated cardiomyopathy in clinical practice.

PMID 10424815 1999 Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.

PMID 21492761 2011 Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.

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

rs977277400 in MYBPC3 gene and Overgrowth PMID 22464770 2012 Genetic testing for dilated cardiomyopathy in clinical practice.

PMID 18533079 2008 Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

PMID 21492761 2011 Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.

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

PMID 10424815 1999 Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.

PMID 23840593 2013 Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.

PMID 7493025 1995 Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.