Variant: rs1555144459 

    present in Gene: PKP2
    present in Chromosome: 12
    Position on Chromosome: 32841038
    Alleles of this Variant: -/A

rs1555144459 in PKP2 gene and Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 PMID 16549640 2006 Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2.

PMID 22781308 2012 Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations.

PMID 15489853 2004 Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.

rs1555144459 in PKP2 gene and Autistic Disorder PMID 16549640 2006 Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2.

PMID 15489853 2004 Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.

PMID 22781308 2012 Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations.