G2079K (p.Gly2079Lys) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2079K (p.Gly2079Lys) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Generalized dominant dystrophic epidermolysis bullosa. The record also includes published literature.
G2079K (p.Gly2079Lys) variant details
- p.Gly2079Lys
- rs2107671950
- ClinGen CA2580069973
- ClinVar RCV002277089
- Ensembl rs2107671950
- Likely pathogenic
- Generalized dominant dystrophic epidermolysis bullosa
- Missense
- ClinVar: Likely pathogenic (Generalized dominant dystrophic epidermolysis bullosa)
- EBI: Likely pathogenic (in DDEB)
- UniProt: Likely pathogenic (in DDEB)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)