NM_000094.4(COL7A1):c.7930-19C>G AND Epidermolysis bullosa dystrophica
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 23, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001826377.1
Allele description [Variation Report for NM_000094.4(COL7A1):c.7930-19C>G]
NM_000094.4(COL7A1):c.7930-19C>G
Condition(s)
- Name:
- Epidermolysis bullosa dystrophica
- Synonyms:
- Dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly); Dystrophic epidermolysis bullosa
- Identifiers:
- MONDO: MONDO:0006543; MedGen: C0079294
-
ctbp2a [Colossoma macropomum]
ctbp2a [Colossoma macropomum]Gene ID:118823826Gene
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Last Updated: Sep 29, 2024