present in Gene: F9
present in Chromosome: X
Position on Chromosome: 139537144
Alleles of this Variant: C/T
rs137852227 in
F9 gene and
Hemophilia B
PMID 18624698 2008 Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B.
PMID 2198809 1990 Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.
PMID 23093250 2013 Our comprehensive HB population included five patients with long-lasting FIX inhibitors: three nonsense (p.E35* (novel), p.R75*, p.W240*) and two entire- F9 deletions.
PMID 27824213 2016 Combined coagulation factor VIII and factor IX deficiency (CDF8F9) in a patient from Lithuania.
PMID 1969838 1990 Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs.
PMID 25470321 2015 Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B.
rs137852227 in
F9 gene and
Thrombophilia, X-Linked, Due To Factor Ix Defect
PMID 23093250 2013 Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.
PMID 1969838 1990 Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs.
PMID 27824213 2016 Combined coagulation factor VIII and factor IX deficiency (CDF8F9) in a patient from Lithuania.
PMID 25470321 2015 Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B.
PMID 18624698 2008 Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B.
PMID 2198809 1990 Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.