Variant (rsID / SNP)

rs7514146

rs7514146 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKP1. Location: chromosome 1, position 201,285,712. Clinical significance in the table: Benign.

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Reference-table entries

PKP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:201285712
Cytoband: 1q32.1
HGVS: NM_001005337.3(PKP1):c.733C>T (p.Leu245=)
Allele change: Synonymous_L245L

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.