Variant: rs118203907

present in Gene: F5 present in Chromosome: 1 Position on Chromosome: 169530805 Alleles of this Variant: T/C

rs118203907 in F5 gene and Hereditary Factor V Deficiency PMID 20735394 2010 A novel compensating mechanism for homozygous coagulation factor V deficiency suggested by enhanced activated partial thromboplastin time after reconstitution with normal factor V.

PMID 21150787 2011 Recommendations from the EGAPP Working Group: routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members.

PMID 12816860 2003 Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations.

PMID 11418372 2001 A missense mutation (Y1702C) in the coagulation factor V gene is a frequent cause of factor V deficiency in the Italian population.

PMID 10942390 2000 Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family.

PMID 16476093 2006 A case of coagulation factor V deficiency caused by compound heterozygous mutations in the factor V gene.