G196C (p.Gly196Cys) variant of COL1A2 (Collagen alpha-2(I) chain)
G196C (p.Gly196Cys) 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 type I; Ehlers-Danlos syndrome, classic type, 1; not pro. The record also includes published literature and structural context.
G196C (p.Gly196Cys) variant details
- p.Gly196Cys
- rs1057517953
- ClinGen CA16042602
- ClinVar RCV000414693
- ClinVar RCV001861415
- Pathogenic
- Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; not pro
- Missense
- ClinVar: Pathogenic (Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic)
- EBI: Pathogenic (in OIEDS2)
- UniProt: Pathogenic (in OIEDS2)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)