Y1699C (p.Tyr1699Cys) variant of F8 (Coagulation factor VIII)
Y1699C (p.Tyr1699Cys) 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 Thrombophilia, X-linked, due to factor 8 defect; Hereditary factor VIII deficien. The record also includes published literature and structural context.
Y1699C (p.Tyr1699Cys) variant details
- p.Tyr1699Cys
- rs28935203
- UniProt VAR 001138
- TOPMed rs28935203
- gnomAD rs28935203
- Likely pathogenic
- Thrombophilia, X-linked, due to factor 8 defect; Hereditary factor VIII deficien
- Missense
- ClinVar: Likely pathogenic (Thrombophilia, X-linked, due to factor 8 defect; Hereditary fact)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important… (PMID 32166871)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)