Variant (rsID / SNP)

rs1314470423

rs1314470423 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP2. Location: chromosome 12, position 33,003,750. 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: 12:33003750
Cytoband: 12p11.21
HGVS: NM_001005242.3(PKP2):c.1328T>C (p.Leu443Pro)
Allele change: Missense_L443P

Associated conditions / phenotypes

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.