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Variant (rsID / SNP)

rs147240502

PKP2

rs147240502 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 32,994,058. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PKP2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
12:32994058
Cytoband
12p11.21
HGVS
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser)
Allele change
Missense_I487S

Associated conditions / phenotypes

Arrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Family history of cardiomyopathy|Arrhythmogenic right ventricular dysplasia 9

Public references

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