W53* (p.Trp53Ter) variant of COL1A1 (Collagen alpha-1(I) chain)
W53* (p.Trp53Ter) 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.
W53* (p.Trp53Ter) variant details
- p.Trp53Ter
- rs2509259283
- ClinGen CA400228546
- ClinVar RCV003632078
- ClinVar RCV004763745
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)