KEGG   VARIANT: 2153v2
Entry
2153v2                      Variant                                
Name
F5 mutation
Type
Loss of function
Gene
F5  coagulation factor V [KO:K03902]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612309
Network
nt06514  Coagulation cascade
Disease
H00220  Factor V deficiency
H00223  Inherited thrombophilia
H01433  Budd-Chiari syndrome
Reference
  Authors
Zhang Y, Zhang Z, Shu S, Niu W, Xie W, Wan J, Zhai Z, Wang C
  Title
The genetics of venous thromboembolism: a systematic review of thrombophilia families.
  Journal
J Thromb Thrombolysis 51:359-369 (2021)
DOI:10.1007/s11239-020-02203-7
Reference
PMID:7590506
  Authors
De Stefano V, Leone G
  Title
Resistance to activated protein C due to mutated factor V as a novel cause of inherited thrombophilia.
  Journal
Haematologica 80:344-56 (1995)
Reference
  Authors
Janssen HL, Meinardi JR, Vleggaar FP, van Uum SH, Haagsma EB, van Der Meer FJ, van Hattum J, Chamuleau RA, Adang RP, Vandenbroucke JP, van Hoek B, Rosendaal FR
  Title
Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: results of a case-control study.
  Journal
Blood 96:2364-8 (2000)
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