Variant (rsID / SNP)
rs769220833
rs769220833 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 33,031,280. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
PKP2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Duplication
- Chromosome / position
- 12:33031280
- Cytoband
- 12p11.21
- HGVS
- NM_001005242.3(PKP2):c.533dup (p.His179fs)
Associated conditions / phenotypes
Arrhythmogenic right ventricular cardiomyopathy|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.