G403R (p.Gly403Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
G403R (p.Gly403Arg) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Osteogenesis imperfecta; Osteogenesis imperfecta, perinatal lethal. The record also includes published literature and structural context.
G403R (p.Gly403Arg) variant details
- p.Gly403Arg
- rs2115898280
- ClinGen CA368221378
- ClinVar RCV002249375
- ClinVar RCV002277099
- Pathogenic
- Osteogenesis imperfecta; Osteogenesis imperfecta, perinatal lethal
- Missense
- ClinVar: Pathogenic (Osteogenesis imperfecta; Osteogenesis imperfecta, perinatal leth)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)