NM_000526.5(KRT14):c.385T>G (p.Tyr129Asp) AND Epidermolysis bullosa simplex
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 30, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001352937.1
Allele description [Variation Report for NM_000526.5(KRT14):c.385T>G (p.Tyr129Asp)]
NM_000526.5(KRT14):c.385T>G (p.Tyr129Asp)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022