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Variant (rsID / SNP)

rs199571473

PKP2

rs199571473 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 33,003,706. 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
12:33003706
Cytoband
12p11.21
HGVS
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val)
Allele change
Missense_I458V

Associated conditions / phenotypes

Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 9|Primary dilated cardiomyopathy

Public references

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