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Variant (rsID / SNP)

rs372827156

PKP2

rs372827156 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 33,003,841. Clinical significance in the table: Pathogenic.

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Reference-table entries

PKP2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
12:33003841
Cytoband
12p11.21
HGVS
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)
Allele change
Nonsense_R413X

Associated conditions / phenotypes

Arrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 9|Familial isolated arrhythmogenic right ventricular dysplasia|Cardiovascular phenotype|Cardiomyopathy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.