Variant (rsID / SNP)

rs794729132

rs794729132 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 33,031,417. Clinical significance in the table: Pathogenic.

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Reference-table entries

PKP2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:33031417
Cytoband: 12p11.21
HGVS: NM_001005242.3(PKP2):c.397C>T (p.Gln133Ter)
Allele change: Nonsense_Q133X

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 9|Familial isolated arrhythmogenic right ventricular dysplasia

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.