G100D (p.Gly100Asp) variant of COL1A2 (Collagen alpha-2(I) chain)
G100D (p.Gly100Asp) 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.
G100D (p.Gly100Asp) variant details
- p.Gly100Asp
- rs1584315950
- ClinGen CA368219460
- ClinVar RCV003988694
- Likely pathogenic
- Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
- Missense
- ClinVar: Likely pathogenic (Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available