Variant: rs727503166 

    present in Gene: MYBPC3
    present in Chromosome: 11
    Position on Chromosome: 47332110
    Alleles of this Variant: T/-

rs727503166 in MYBPC3 gene and Cardiomyopathy, Hypertrophic, Familial PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

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

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

PMID 20019025 2010 The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening.

PMID 22115648 2011 Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history.

PMID 20031619 2009 Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.

PMID 29121657 2017 Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.

PMID 23396983 2013 Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

PMID 19808356 2009 Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.

rs727503166 in MYBPC3 gene and Hypertrophic Cardiomyopathy PMID 20031619 2009 Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.

rs727503166 in MYBPC3 gene and Left ventricular noncompaction PMID 20031619 2009 Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.