G391R (p.Gly391Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
G391R (p.Gly391Arg) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Osteogenesis imperfecta; Osteogenesis imperfecta with normal sclerae, dominant f. The record also includes published literature and structural context.
G391R (p.Gly391Arg) variant details
- p.Gly391Arg
- rs67707918
- ClinGen CA368221296
- ClinVar RCV002251215
- ClinVar RCV005626617
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta; Osteogenesis imperfecta with normal sclerae, dominant f
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta; Osteogenesis imperfecta with normal scl)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)