G190E (p.Gly190Glu) variant of COL1A2 (Collagen alpha-2(I) chain)
G190E (p.Gly190Glu) 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 type I; Ehlers-Danlos syndrome, classic type, 1; not pro. The record also includes published literature and structural context.
G190E (p.Gly190Glu) variant details
- p.Gly190Glu
- rs72656369
- ClinGen CA368220065
- ClinVar RCV000762460
- ClinVar RCV002533908
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; not pro
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic)
- 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)