G1102S (p.Gly1102Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G1102S (p.Gly1102Ser) 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 not provided; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta. The record also includes published literature and structural context.
G1102S (p.Gly1102Ser) variant details
- p.Gly1102Ser
- rs67768540
- ClinGen CA162941098
- ClinVar RCV000710784
- ClinVar RCV003388595
- Pathogenic
- not provided; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta
- Missense
- ClinVar: Pathogenic (not provided; Osteogenesis imperfecta, perinatal lethal; Osteoge)
- EBI: Pathogenic (in OI4)
- UniProt: Pathogenic (in OI4)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)