NM_000213.5(ITGB4):c.4521C>G (p.Pro1507=) AND Junctional epidermolysis bullosa, non-Herlitz type
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Aug 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001730600.2
Allele description [Variation Report for NM_000213.5(ITGB4):c.4521C>G (p.Pro1507=)]
NM_000213.5(ITGB4):c.4521C>G (p.Pro1507=)
Condition(s)
- Name:
- Junctional epidermolysis bullosa, non-Herlitz type
- Synonyms:
- EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009180; MedGen: C0268374; Orphanet: 251393; Orphanet: 79402; Orphanet: 79405; Orphanet: 89840; OMIM: 226650
Assertion and evidence details
Last Updated: Sep 29, 2024