Variant (rsID / SNP)

rs775995156

rs775995156 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 32,996,182. 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: Deletion
Chromosome / position: 12:32996182
Cytoband: 12p11.21
HGVS: NM_001005242.3(PKP2):c.1379-2047_1379-2043del

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 9|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.