Variant (rsID / SNP)
rs1064794350
rs1064794350 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 32,949,219. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
PKP2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Microsatellite
- Chromosome / position
- 12:32949219
- Cytoband
- 12p11.21
- HGVS
- NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs)
Associated conditions / phenotypes
Familial isolated arrhythmogenic right ventricular dysplasia|Arrhythmogenic right ventricular dysplasia 9
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.