G937C (p.Gly937Cys) variant of COL1A2 (Collagen alpha-2(I) chain)
G937C (p.Gly937Cys) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Osteogenesis imperfecta with normal sclerae, dominant form; not provided. The record also includes published literature and structural context.
G937C (p.Gly937Cys) variant details
- p.Gly937Cys
- rs72659309
- ClinGen CA162939753
- NCI-TCGA Cosmic COSV5196
- cosmic curated COSV51961
- Pathogenic
- Osteogenesis imperfecta with normal sclerae, dominant form; not provided
- Missense
- ClinVar: Pathogenic (Osteogenesis imperfecta with normal sclerae, dominant form; not)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)