G349S (p.Gly349Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G349S (p.Gly349Ser) 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; Osteoge. The record also includes published literature and structural context.
G349S (p.Gly349Ser) variant details
- p.Gly349Ser
- rs66773001
- ClinGen CA162920756
- ClinVar RCV002242822
- ClinVar RCV005627114
- Pathogenic
- Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; Osteoge
- Missense
- ClinVar: Pathogenic (Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic)
- 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)