Variant: rs746877365 

    present in Gene: DSP
    present in Chromosome: 6
    Position on Chromosome: 7579527
    Alleles of this Variant: C/G;T

rs746877365 in DSP gene and Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 PMID 19095136 2008 Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.

PMID 20716751 2010 Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.

PMID 19279339 2009 A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.

PMID 24070718 2013 Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.

rs746877365 in DSP gene and Cardiomyopathy dilated with Woolly hair and keratoderma PMID 24070718 2013 Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.

PMID 19095136 2008 Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.

PMID 20716751 2010 Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.

PMID 19279339 2009 A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.

rs746877365 in DSP gene and Long QT Syndrome 1 PMID 21606390 2011 Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria.

PMID 19095136 2008 Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.

PMID 19279339 2009 A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.

PMID 25163546 2015 Atlas of the clinical genetics of human dilated cardiomyopathy.

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 25225338 2014 Disease mutations in desmoplakin inhibit Cx43 membrane targeting mediated by desmoplakin-EB1 interactions.

PMID 25820315 2015 Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members.

PMID 30382575 2019 Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.