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Variant (rsID / SNP)

rs193922672

PKP2

rs193922672 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 32,994,037. 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
12:32994037
Cytoband
12p11.21
HGVS
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)
Allele change
Nonsense_W494X

Associated conditions / phenotypes

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

Public references

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