G1024R (p.Gly1024Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
G1024R (p.Gly1024Arg) 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 COL1A2-related disorder; Osteogenesis imperfecta, perinatal lethal; Osteogenesis. The record also includes published literature and structural context.
G1024R (p.Gly1024Arg) variant details
- p.Gly1024Arg
- rs2115954840
- ClinGen CA368225205
- ClinVar RCV001795872
- ClinVar RCV003416459
- Pathogenic/Likely pathogenic
- COL1A2-related disorder; Osteogenesis imperfecta, perinatal lethal; Osteogenesis
- Missense
- ClinVar: Pathogenic/Likely pathogenic (COL1A2-related disorder; Osteogenesis imperfecta, perinatal leth)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)