NM_000494.4(COL17A1):c.3625G>A (p.Gly1209Ser) AND Junctional epidermolysis bullosa, non-Herlitz type
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001102641.4
Allele description [Variation Report for NM_000494.4(COL17A1):c.3625G>A (p.Gly1209Ser)]
NM_000494.4(COL17A1):c.3625G>A (p.Gly1209Ser)
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: Jun 9, 2024