Variant (rsID / SNP)

rs193922674

rs193922674 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 32,955,491. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PKP2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:32955491
Cytoband: 12p11.21
HGVS: NM_001005242.3(PKP2):c.2014-1G>C
Allele change: Silent

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 9|Arrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|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.