Variant (rsID / SNP)

rs78672252

rs78672252 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP1. Location: chromosome 1, position 201,289,498. Clinical significance in the table: Likely benign.

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Reference-table entries

PKP1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:201289498
Cytoband: 1q32.1
HGVS: NM_001005337.3(PKP1):c.1336T>C (p.Cys446Arg)
Allele change: Missense_C446R

Associated conditions / phenotypes

Epidermolysis bullosa simplex due to plakophilin deficiency

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.