G340S (p.Gly340Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G340S (p.Gly340Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2. The record also includes structural context.
G340S (p.Gly340Ser) variant details
- p.Gly340Ser
- rs67180473
- ClinGen CA162920411
- ClinVar RCV002244114
- Ensembl rs67180473
- Likely pathogenic
- Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
- Missense
- ClinVar: Likely pathogenic (Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available