E25* (p.Glu25Ter) variant of COL1A1 (Collagen alpha-1(I) chain)
E25* (p.Glu25Ter) 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.
E25* (p.Glu25Ter) variant details
- p.Glu25Ter
- rs2509266699
- ClinGen CA400230229
- ClinVar RCV003517959
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)