NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu) AND Epidermolysis bullosa dystrophica
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 14, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001352764.1
Allele description [Variation Report for NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu)]
NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu)
Condition(s)
- Name:
- Epidermolysis bullosa dystrophica
- Synonyms:
- Dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly); Dystrophic epidermolysis bullosa
- Identifiers:
- MONDO: MONDO:0006543; MedGen: C0079294
-
txid2659005[Organism:noexp] (1)
Identical Protein Groups
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Last Updated: Sep 29, 2024