Variant (rsID / SNP)
rs111517471
rs111517471 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 32,949,042. Clinical significance in the table: Pathogenic.
Reference-table entries
PKP2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:32949042
- Cytoband
- 12p11.21
- HGVS
- NM_001005242.3(PKP2):c.2357+1G>A
- Allele change
- Silent
Associated conditions / phenotypes
Arrhythmogenic right ventricular dysplasia 9|Arrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic ventricular cardiomyopathy|Aborted sudden cardiac death|Cardiomyopathy|Familial isolated arrhythmogenic right ventricular dysplasia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.