Variant (rsID / SNP)

rs1060501184

rs1060501184 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 32,949,233. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PKP2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:32949233
Cytoband: 12p11.21
HGVS: NM_001005242.3(PKP2):c.2168-1G>A
Allele change: Silent

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 9

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.