G292C (p.Gly292Cys) variant of COL1A2 (Collagen alpha-2(I) chain)
G292C (p.Gly292Cys) 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 with normal sclerae, dominant form; Ehlers-Danlos syndro. The record also includes published literature and structural context.
G292C (p.Gly292Cys) variant details
- p.Gly292Cys
- rs906553840
- ClinGen CA368220687
- ClinVar RCV002244160
- ClinVar RCV003774692
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta with normal sclerae, dominant form; Ehlers-Danlos syndro
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta with normal sclerae, dominant form; Ehle)
- 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)