G427S (p.Gly427Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G427S (p.Gly427Ser) 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 with normal sclerae, dominant form; Osteogenesis imperfe. The record also includes published literature and structural context.
G427S (p.Gly427Ser) variant details
- p.Gly427Ser
- rs72658113
- ClinGen CA162921999
- ClinVar RCV003781063
- ClinVar RCV005627130
- Pathogenic
- Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfe
- Missense
- ClinVar: Pathogenic (Osteogenesis imperfecta with normal sclerae, dominant form; Oste)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)