D2206G (p.Asp2206Gly) variant of F8 (Coagulation factor VIII)
D2206G (p.Asp2206Gly) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor VIII deficiency disease; Thrombophilia, X-linked, due to facto. The record also includes variant effect predictions, published literature, and structural context.
D2206G (p.Asp2206Gly) variant details
- p.Asp2206Gly
- rs2072694107
- ClinGen CA414906013
- ClinVar RCV002245384
- ClinVar RCV006274333
- Likely pathogenic
- Hereditary factor VIII deficiency disease; Thrombophilia, X-linked, due to facto
- Missense
- MutPred 0.43
- ClinVar: Likely pathogenic (Hereditary factor VIII deficiency disease; Thrombophilia, X-link)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)