D75E (p.Asp75Glu) variant of F8 (Coagulation factor VIII)
D75E (p.Asp75Glu) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thrombophilia, X-linked, due to factor 8 defect; Hereditary factor VIII deficien. The record also includes published literature and structural context.
D75E (p.Asp75Glu) variant details
- p.Asp75Glu
- UniProt VAR 028459
- Uncertain significance
- Thrombophilia, X-linked, due to factor 8 defect; Hereditary factor VIII deficien
- Missense
- ClinVar: Uncertain significance (Thrombophilia, X-linked, due to factor 8 defect; Hereditary fact)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with… (PMID 7759074)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)