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Variant (rsID / SNP)

rs138901574

PKP2

rs138901574 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 32,974,461. 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
12:32974461
Cytoband
12p11.21
HGVS
NM_001005242.3(PKP2):c.1842A>G (p.Gln614=)
Allele change
Synonymous_Q614Q

Associated conditions / phenotypes

Ventricular fibrillation, paroxysmal familial, type 1|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.