Variant (rsID / SNP)
rs794729129
rs794729129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 32,976,982. Clinical significance in the table: Pathogenic.
Reference-table entries
PKP2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 12:32976982
- Cytoband
- 12p11.21
- HGVS
- NM_001005242.3(PKP2):c.1671del (p.Asp557fs)
Associated conditions / phenotypes
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.