G292D (p.Gly292Asp) variant of COL1A2 (Collagen alpha-2(I) chain)
G292D (p.Gly292Asp) 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 not provided; Osteogenesis imperfecta with normal sclerae, dominant form; Osteog. The record also includes published literature and structural context.
G292D (p.Gly292Asp) variant details
- p.Gly292Asp
- rs1131692167
- ClinGen CA368220690
- ClinVar RCV000991263
- ClinVar RCV003315360
- Pathogenic/Likely pathogenic
- not provided; Osteogenesis imperfecta with normal sclerae, dominant form; Osteog
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Osteogenesis imperfecta with normal sclerae, domin)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)