Variant (rsID / SNP)

rs1046116

rs1046116 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 33,021,934. Clinical significance in the table: Benign.

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Reference-table entries

PKP2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:33021934
Cytoband: 12p11.21
HGVS: NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro)
Allele change: Missense_L366P

Associated conditions / phenotypes

Arrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 9|Cardiomyopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.