E100* (p.Glu100Ter) variant of COL1A1 (Collagen alpha-1(I) chain)
E100* (p.Glu100Ter) 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.
E100* (p.Glu100Ter) variant details
- p.Glu100Ter
- rs2144593675
- ClinGen CA400227994
- ClinVar RCV002266131
- Ensembl rs2144593675
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)