NM_201384.3(PLEC):c.1405C>T (p.Gln469Ter) AND Junctional epidermolysis bullosa with pyloric atresia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 14, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000239385.1
Allele description [Variation Report for NM_201384.3(PLEC):c.1405C>T (p.Gln469Ter)]
NM_201384.3(PLEC):c.1405C>T (p.Gln469Ter)
Condition(s)
- Name:
- Junctional epidermolysis bullosa with pyloric atresia
- Synonyms:
- EB-PA-ACC; Epidermolysis bullosa with pyloric atresia; Carmi syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009183; MedGen: C5676875; Orphanet: 79403; OMIM: 226730
Assertion and evidence details
Last Updated: Aug 5, 2023