Variant: rs111517471 

    present in Gene: PKP2
    present in Chromosome: 12
    Position on Chromosome: 32796108
    Alleles of this Variant: C/A;G;T

rs111517471 in PKP2 gene and Aborted sudden cardiac death PMID 20857253 2010 Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 16567567 2006 Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 20031617 2009 Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 20646679 2010 Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: the experience of a tertiary referral center in The Netherlands.

PMID 21636032 2011 Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.

PMID 20400443 2010 Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.

PMID 19358943 2009 Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study.

PMID 20031616 2009 Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.

PMID 21822014 2011 Familial evaluation for diagnosis of arrhythmogenic right ventricular dysplasia.

PMID 23812740 2013 TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.

PMID 21606396 2011 Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study.

PMID 17010805 2006 Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 19880068 2009 Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the arrhythmogenic right ventricular cardiomyopathy registry of South Africa.

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

PMID 16415378 2006 Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy.

PMID 21606390 2011 Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria.

PMID 22214898 2012 Compound and digenic heterozygosity in desmosome genes as a cause of arrhythmogenic right ventricular cardiomyopathy in Japanese patients.

rs111517471 in PKP2 gene and Arrhythmogenic Right Ventricular Dysplasia PMID 21636032 2011 Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.

PMID 22214898 2012 Compound and digenic heterozygosity in desmosome genes as a cause of arrhythmogenic right ventricular cardiomyopathy in Japanese patients.

PMID 21606396 2011 Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study.

PMID 21822014 2011 Familial evaluation for diagnosis of arrhythmogenic right ventricular dysplasia.

PMID 20031616 2009 Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.

PMID 21606390 2011 Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria.

PMID 2412583 1985 How shortening a channel may lower its conductance. The case of des-Val7-DVal8-gramicidin A.

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

PMID 20400443 2010 Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.

PMID 20857253 2010 Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 20031617 2009 Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 19358943 2009 Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study.

PMID 16567567 2006 Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 17010805 2006 Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 23812740 2013 TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.

PMID 16549640 2006 Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2.

rs111517471 in PKP2 gene and Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 PMID 15489853 2004 Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.

PMID 20031616 2009 Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.

PMID 23911551 2013 Mechanistic basis of desmosome-targeted diseases.

PMID 20031617 2009 Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 17010805 2006 Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 21822014 2011 Familial evaluation for diagnosis of arrhythmogenic right ventricular dysplasia.

PMID 22214898 2012 Compound and digenic heterozygosity in desmosome genes as a cause of arrhythmogenic right ventricular cardiomyopathy in Japanese patients.