Variant (rsID / SNP)
rs146708884
rs146708884 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 33,049,492. 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
- 12:33049492
- Cytoband
- 12p11.21
- HGVS
- NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp)
- Allele change
- Missense_E58D
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.