E135* (p.Glu135Ter) variant of F11 (Coagulation factor XI)
E135* (p.Glu135Ter) in F11 (Coagulation factor XI) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data, published literature, and structural context.
E135* (p.Glu135Ter) variant details
- p.Glu135Ter
- rs121965063
- ClinGen CA121745
- ClinVar RCV000012666
- ClinVar RCV000311271
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Factor XI deficiency in Ashkenazi Jews in Israel. (PMID 2052060)
- Cited in: Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from… (PMID 2813350)