Variant (rsID / SNP)

rs200343561

rs200343561 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 32,993,981. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PKP2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:32993981
Cytoband: 12p11.21
HGVS: NM_001005242.3(PKP2):c.1537A>G (p.Asn513Asp)
Allele change: Missense_N513D

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 9|Cardiovascular phenotype|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.