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Variant (rsID / SNP)

rs727504098

PKP2

rs727504098 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 32,994,066. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PKP2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:32994066
Cytoband
12p11.21
HGVS
NM_001005242.3(PKP2):c.1452G>A (p.Thr484=)
Allele change
Synonymous_T484T

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 9|Cardiomyopathy

Public references

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