rs1603264205
This variant is located in the F9 gene.
▶ClinVar annotation
not specified; Hereditary factor IX deficiency disease; Hereditary factor IX deficiency disease;Thrombophilia, X-linked, due to factor 9 defect; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶Recurrent mutations in the factor IX gene: founder effect or repeat de novo eventsCase reportN=114Knobloch O. et al.(1993)· Human Genetics
Analysis of 114 German haemophilia B patients identified mutations in 103 (90.4%) factor IX genes, with 81.6% being unique molecular events. Haplotype analysis and de novo mutation studies revealed that recurrent mutations occurred independently rather than from founder effects. Study identified 23 de novo mutations, demonstrating an 83-fold enhancement of mutations at CpG dinucleotides and a nearly twofold higher mutation rate in the male germ line.
About F9
This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Sep 2015]
View all F9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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