C63* (p.Cys63Ter) variant of COL1A1 (Collagen alpha-1(I) chain)
C63* (p.Cys63Ter) 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.
C63* (p.Cys63Ter) variant details
- p.Cys63Ter
- rs779952705
- ClinGen CA400228436
- ClinVar RCV003064477
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)