Variant (rsID / SNP)
rs397516988
rs397516988 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 33,021,854. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PKP2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- Deletion
- Chromosome / position
- 12:33021854
- Cytoband
- 12p11.21
- HGVS
- NM_001005242.3(PKP2):c.1170+4_1170+7del
Associated conditions / phenotypes
Cardiovascular phenotype|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.