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.