D34E (p.Asp34Glu) variant of F8 (Coagulation factor VIII)
D34E (p.Asp34Glu) 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 Hereditary factor VIII deficiency disease. The record also includes published literature and structural context.
D34E (p.Asp34Glu) variant details
- p.Asp34Glu
- rs1800283
- ClinGen CA414920520
- ClinVar RCV003447795
- Uncertain significance
- Hereditary factor VIII deficiency disease
- Missense
- ClinVar: Uncertain significance (Hereditary factor VIII deficiency disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)