Variant: rs1390387214 

    present in Gene: DSC2
    present in Chromosome: 18
    Position on Chromosome: 31087752
    Alleles of this Variant: A/G

rs1390387214 in DSC2 gene and Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 PMID 19863551 2010 Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

PMID 21062920 2011 Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.

PMID 28256248 2017 Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy.

PMID 17033975 2006 Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.