Variant (rsID / SNP)
rs397517010
rs397517010 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 32,975,550. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
PKP2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Duplication
- Chromosome / position
- 12:32975550
- Cytoband
- 12p11.21
- HGVS
- NM_001005242.3(PKP2):c.1689dup (p.Val564fs)
Associated conditions / phenotypes
Arrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 9|Cardiomyopathy|Familial isolated arrhythmogenic right ventricular dysplasia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.