Q23* (p.Gln23Ter) variant of COL1A2 (Collagen alpha-2(I) chain)
Q23* (p.Gln23Ter) in COL1A2 (Collagen alpha-2(I) chain) is a protein-truncating change. Clinical records from UniProt describe it as osteogenesis imperfecta with normal sclerae, dom. The record also includes published literature and structural context.
Q23* (p.Gln23Ter) variant details
- p.Gln23Ter
- rs2484686683
- ClinGen CA368218900
- ClinVar RCV003988627
- Osteogenesis imperfecta with normal sclerae, dom
- Stop Gained
- UniProt: Osteogenesis imperfecta with normal sclerae, dom
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)