Variant: rs1057517711 

    present in Gene: CACNA1C
    present in Chromosome: 12
    Position on Chromosome: 2566466
    Alleles of this Variant: G/A

rs1057517711 in CACNA1C gene and Cardiomyopathy, Familial Hypertrophic, 1 (disorder) PMID 26253506 2015 Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death.