Variant (rsID / SNP)

rs62001015

rs62001015 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 33,031,108. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PKP2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:33031108
Cytoband: 12p11.21
HGVS: NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser)
Allele change: Missense_A236S

Associated conditions / phenotypes

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.