Q31* (p.Gln31Ter) variant of COL1A1 (Collagen alpha-1(I) chain)
Q31* (p.Gln31Ter) in COL1A1 (Collagen alpha-1(I) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q31* (p.Gln31Ter) variant details
- p.Gln31Ter
- rs794726873
- ClinGen CA274894
- ClinVar RCV000173063
- ClinVar RCV001852105
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)