Variant (rsID / SNP)
rs201944276
rs201944276 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 33,030,988. 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
- 12:33030988
- Cytoband
- 12p11.21
- HGVS
- NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser)
- Allele change
- Missense_P276S
Associated conditions / phenotypes
Cardiovascular phenotype|Cardiomyopathy|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.