Variant: rs104894392 

    present in Gene: F10
    present in Chromosome: 13
    Position on Chromosome: 113149146
    Alleles of this Variant: C/G;T

rs104894392 in F10 gene and Factor X Deficiency PMID 8529633 1995 Functional consequences of the Ser334-->Pro mutation in a human factor X variant (factor XMarseille).

PMID 25313940 2014 Molecular dynamics characterization of five pathogenic Factor X mutants associated with decreased catalytic activity.

PMID 10739379 2000 The impact of Glu102Lys on the factor X function in a patient with a doubly homozygous factor X deficiency (Gla14Lys and Glu102Lys).

PMID 26222694 2015 Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency.

PMID 15650540 2005 Genetic analysis of hereditary factor X deficiency in a French patient of Sri Lankan ancestry: in vitro expression study identified Gly366Ser substitution as the molecular basis of the dysfunctional factor X.

PMID 19135706 2009 Characterization of a homozygous Gly11Val mutation in the Gla domain of coagulation factor X.

PMID 12574802 2003 Impaired prothrombinase activity of factor X Gly381Asp results in severe familial CRM+ FX deficiency.

PMID 2790181 1989 Molecular characterization of human factor XSan Antonio.

PMID 7669671 1995 Molecular bases of CRM+ factor X deficiency: a frequent mutation (Ser334Pro) in the catalytic domain and a substitution (Glu102Lys) in the second EGF-like domain.

PMID 10468877 1999 A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo).

PMID 10746568 2000 Molecular analysis of the genotype-phenotype relationship in factor X deficiency.

PMID 1973167 1990 "Molecular defect (Gla+14----Lys) and its functional consequences in a hereditary factor X deficiency (factor X ""Vorarlberg"")."

PMID 11728527 2001 A new factor X defect (factor X Padua 3): a compound heterozygous between true deficiency (Gly(380)-->Arg) and an abnormality (Ser(334)-->Pro).

PMID 7860069 1995 Factor XKetchikan: a variant molecule in which Gly replaces a Gla residue at position 14 in the light chain.

PMID 11248282 2001 A dysfunctional factor X (factor X San Giovanni Rotondo) present at homozygous and double heterozygous level: identification of a novel microdeletion (delC556) and missense mutation (Lys(408)-->Asn) in the factor X gene. A study of an Italian family.

PMID 12945883 2003 A novel type I factor X variant (factor X Cys350Phe) due to loss of a disulfide bond in the catalytic domain.

PMID 17393015 2007 Analysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly.

PMID 15075089 2004 Molecular characterization of factor X deficiency associated with borderline plasma factor X level.

PMID 8845463 1996 Factor X Stockton: a mild bleeding diathesis associated with an active site mutation in factor X.

PMID 8910490 1996 Factor XSt. Louis II. Identification of a glycine substitution at residue 7 and characterization of the recombinant protein.