G331S (p.Gly331Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G331S (p.Gly331Ser) 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 with normal sclerae, dominant form; Osteogenesis imperfe. The record also includes published literature and structural context.
G331S (p.Gly331Ser) variant details
- p.Gly331Ser
- rs2484708328
- ClinGen CA368220929
- ClinVar RCV003806684
- ClinVar RCV005627134
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfe
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta with normal sclerae, dominant form; Oste)
- EBI: Pathogenic (in OI3)
- UniProt: Pathogenic (in OI3)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)