R1768C (p.Arg1768Cys) variant of F8 (Coagulation factor VIII)
R1768C (p.Arg1768Cys) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary factor VIII deficiency disease. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
R1768C (p.Arg1768Cys) variant details
- p.Arg1768Cys
- rs1046670041
- ClinGen CA414910858
- NCI-TCGA Cosmic COSV6426
- ClinVar RCV002272720
- Pathogenic/Likely pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- MutPred 0.62
- ClinVar: Pathogenic/Likely pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Population evidence available
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)