Gene entry
PKP1
plakophilin 1
- Chromosome
- 1
- Cytoband
- 1q32.1
- Variants (rsID)
- 20
PKP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q32.1). Its official name is “plakophilin 1”. The reference table lists 20 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs10920171Benignsingle nucleotide variantEpidermolysis bullosa simplex due to plakophilin deficiency
- rs34626929Benignsingle nucleotide variantEpidermolysis bullosa simplex due to plakophilin deficiency
- rs61818256Benignsingle nucleotide variantEpidermolysis bullosa simplex due to plakophilin deficiency
- rs7514146Benignsingle nucleotide variantEpidermolysis bullosa simplex due to plakophilin deficiency
- rs947376Benignsingle nucleotide variantEpidermolysis bullosa simplex due to plakophilin deficiency
- rs78672252Likely benignsingle nucleotide variantEpidermolysis bullosa simplex due to plakophilin deficiency
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.