NM_000094.4(COL7A1):c.7417G>A (p.Glu2473Lys) AND Epidermolysis bullosa dystrophica inversa, autosomal recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 23, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001278921.1
Allele description [Variation Report for NM_000094.4(COL7A1):c.7417G>A (p.Glu2473Lys)]
NM_000094.4(COL7A1):c.7417G>A (p.Glu2473Lys)
Condition(s)
- Name:
- Epidermolysis bullosa dystrophica inversa, autosomal recessive
- Identifiers:
- MedGen: C2673612
-
glycosyltransferase [Thomasclavelia ramosa]
glycosyltransferase [Thomasclavelia ramosa]gi|1966881613|gnl|PRJNA231221|I6I63 5|gb|QQY29159.1|Protein
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Last Updated: Feb 20, 2024