G901C (p.Gly901Cys) variant of COL1A2 (Collagen alpha-2(I) chain)
G901C (p.Gly901Cys) 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 not provided; Osteogenesis imperfecta with normal sclerae, dominant form. The record also includes published literature and structural context.
G901C (p.Gly901Cys) variant details
- p.Gly901Cys
- rs72659306
- ClinGen CA368224443
- NCI-TCGA Cosmic COSV5196
- ClinVar RCV001596918
- Likely pathogenic
- not provided; Osteogenesis imperfecta with normal sclerae, dominant form
- Missense
- ClinVar: 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)