Variant (rsID / SNP)
rs143004808
rs143004808 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 33,049,590. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
PKP2Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:33049590
- Cytoband
- 12p11.21
- HGVS
- NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn)
- Allele change
- Missense_D26N
Associated conditions / phenotypes
Arrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 9|Cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.