Variant (rsID / SNP)

rs794729126

rs794729126 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 32,994,071. Clinical significance in the table: Pathogenic.

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Reference-table entries

PKP2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 12:32994071
Cytoband: 12p11.21
HGVS: NM_001005242.3(PKP2):c.1447del (p.Thr482_Leu483insTer)

Associated conditions / phenotypes

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