NM_001005337.3(PKP1):c.995G>A (p.Arg332His) AND Epidermolysis bullosa simplex due to plakophilin deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000306163.5
Allele description [Variation Report for NM_001005337.3(PKP1):c.995G>A (p.Arg332His)]
NM_001005337.3(PKP1):c.995G>A (p.Arg332His)
Condition(s)
Assertion and evidence details
Last Updated: Jul 29, 2023