G2366D (p.Gly2366Asp) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2366D (p.Gly2366Asp) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolysis bullosa dystrophica. The record also includes variant effect predictions, population frequency data, and published literature.
G2366D (p.Gly2366Asp) variant details
- p.Gly2366Asp
- rs2043899331
- ClinGen CA352651446
- ClinVar RCV001352825
- gnomAD rs2043899331
- Pathogenic
- Epidermolysis bullosa dystrophica
- Missense
- CADD 24.20
- ClinVar: Pathogenic (Epidermolysis bullosa dystrophica)
- EBI: Pathogenic (in RDEB)
- UniProt: Pathogenic (in RDEB)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)