NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter) AND Pretibial dystrophic epidermolysis bullosa
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002227156.2
Allele description
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter)
Condition(s)
- Name:
- Pretibial dystrophic epidermolysis bullosa
- Synonyms:
- EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL; Pretibial epidermolysis bullosa; Pretibial blistering
- Identifiers:
- MONDO: MONDO:0007552; MedGen: C0432321; Orphanet: 79410; OMIM: 131850; Human Phenotype Ontology: HP:0012221
Assertion and evidence details
Last Updated: Jun 29, 2024