S19R (p.Ser19Arg) variant of F8 (Coagulation factor VIII)
S19R (p.Ser19Arg) 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. The record also includes published literature and structural context.
S19R (p.Ser19Arg) variant details
- p.Ser19Arg
- rs2124174458
- ClinGen CA414920626
- ClinVar RCV001802542
- UniProt VAR 028447
- Likely pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- ClinVar: Likely pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G-->A) and… (PMID 10338101)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)