Q42* (p.Gln42Ter) variant of COL1A1 (Collagen alpha-1(I) chain)
Q42* (p.Gln42Ter) 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 variant effect predictions, published literature, and structural context.
Q42* (p.Gln42Ter) variant details
- p.Gln42Ter
- rs1223061614
- ClinGen CA400228661
- ClinVar RCV003518716
- Pathogenic
- Stop Gained
- MutPred 0.48
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)