Variant (rsID / SNP)

rs397516990

rs397516990 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 33,003,807. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

PKP2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:33003807
Cytoband: 12p11.21
HGVS: NM_001005242.3(PKP2):c.1271T>C (p.Phe424Ser)
Allele change: Missense_F424S

Associated conditions / phenotypes

Arrhythmogenic right ventricular cardiomyopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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