NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala) AND Junctional epidermolysis bullosa gravis of Herlitz
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 7, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000675069.1
Allele description [Variation Report for NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala)]
NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala)
Condition(s)
- Name:
- Junctional epidermolysis bullosa gravis of Herlitz
- Synonyms:
- EPIDERMOLYSIS BULLOSA JUNCTIONALIS, HERLITZ TYPE; JEB-HERLITZ TYPE; Epidermolysis bullosa, junctional, Herlitz-Pearson type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009182; MedGen: C0079683; Orphanet: 79404; OMIM: 226700
Assertion and evidence details
Last Updated: Jun 9, 2024