G997S (p.Gly997Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G997S (p.Gly997Ser) 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.
G997S (p.Gly997Ser) variant details
- p.Gly997Ser
- rs1562907287
- ClinGen CA368225029
- ClinVar RCV000755947
- ClinVar RCV004586915
- 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 OI2)
- UniProt: Pathogenic (in OI2)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)