Y47* (p.Tyr47Ter) variant of COL1A1 (Collagen alpha-1(I) chain)
Y47* (p.Tyr47Ter) in COL1A1 (Collagen alpha-1(I) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
Y47* (p.Tyr47Ter) variant details
- p.Tyr47Ter
- rs2509259501
- ClinGen CA400228604
- ClinVar RCV002467486
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)