Variant (rsID / SNP)

rs368740836

rs368740836 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 32,994,014. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PKP2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:32994014
Cytoband: 12p11.21
HGVS: NM_001005242.3(PKP2):c.1504G>A (p.Ala502Thr)
Allele change: Missense_A502T

Associated conditions / phenotypes

Cardiovascular phenotype|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.