G964D (p.Gly964Asp) variant of COL1A2 (Collagen alpha-2(I) chain)
G964D (p.Gly964Asp) 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, perinatal lethal; not provided. The record also includes published literature and structural context.
G964D (p.Gly964Asp) variant details
- p.Gly964Asp
- rs1085307707
- ClinGen CA368224831
- ClinVar RCV000490098
- ClinVar RCV006454680
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta, perinatal lethal; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta, perinatal lethal; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)