Variant (rsID / SNP)
rs144018320
rs144018320 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 32,955,486. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PKP2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:32955486
- Cytoband
- 12p11.21
- HGVS
- NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu)
- Allele change
- Missense_P673L
Associated conditions / phenotypes
Arrhythmogenic right ventricular dysplasia 9|Cardiovascular phenotype|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.