Variant (rsID / SNP)
rs876657659
rs876657659 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 33,003,776. Clinical significance in the table: Likely pathogenic.
Reference-table entries
PKP2Likely pathogenic
- Clinical significance (as recorded)
- Likely pathogenic
- Variant type
- Duplication
- Chromosome / position
- 12:33003776
- Cytoband
- 12p11.21
- HGVS
- NM_001005242.3(PKP2):c.1301dup (p.Ala434_Glu435insTer)
Associated conditions / phenotypes
Arrhythmogenic right ventricular cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.