G2749E (p.Gly2749Glu) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2749E (p.Gly2749Glu) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Epidermolysis bullosa dystrophica; not provided; Recessive dystrophic epidermoly.
G2749E (p.Gly2749Glu) variant details
- p.Gly2749Glu
- NCI-TCGA TCGA novel
- Pathogenic/Likely pathogenic
- Epidermolysis bullosa dystrophica; not provided; Recessive dystrophic epidermoly
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Epidermolysis bullosa dystrophica; not provided; Recessive dystr)
- EBI: Pathogenic (in RDEB)
- UniProt: Pathogenic (in RDEB)