Variant (rsID / SNP)
rs6488090
rs6488090 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 32,944,414. Clinical significance in the table: Benign.
Reference-table entries
PKP2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:32944414
- Cytoband
- 12p11.21
- HGVS
- NM_001005242.3(PKP2):c.*944C>A
- Allele change
- Silent
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.