E88* (p.Glu88Ter) variant of COL1A1 (Collagen alpha-1(I) chain)
E88* (p.Glu88Ter) 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.
E88* (p.Glu88Ter) variant details
- p.Glu88Ter
- rs1555575370
- ClinGen CA400228115
- ClinVar RCV000578718
- ClinVar RCV000802325
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)