Variant: rs387906397 

    present in Gene: MYBPC3
    present in Chromosome: 11
    Position on Chromosome: 47333192
    Alleles of this Variant: A/C;G

rs387906397 in MYBPC3 gene and Cardiomyopathy, Hypertrophic, Familial PMID 17937428 2007 Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy.

PMID 25031304 2014 Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.

PMID 18467358 2008 Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.

PMID 21835286 2011 Subclinical echocardiographic abnormalities in phenotype-negative carriers of myosin-binding protein C3 gene mutation for hypertrophic cardiomyopathy.

PMID 18403758 2008 Shared genetic causes of cardiac hypertrophy in children and adults.

rs387906397 in MYBPC3 gene and Dysmorphic features 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 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

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

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

rs387906397 in MYBPC3 gene and Hypertrophic Cardiomyopathy PMID 25031304 2014 Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.

PMID 18467358 2008 Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.

PMID 17937428 2007 Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy.

PMID 21835286 2011 Subclinical echocardiographic abnormalities in phenotype-negative carriers of myosin-binding protein C3 gene mutation for hypertrophic cardiomyopathy.

PMID 18403758 2008 Shared genetic causes of cardiac hypertrophy in children and adults.