Phenotype: Factor X deficiency


OMIM: 227600
Inheritance: Autosomal recessive
Classification: Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

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F10 || g.8409T>C

Gene/Locus:    F10
Dna Change:    g.8409T>C
Protein Change:    p.Phe31Ser
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 2
Transcript:    NM_000504.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
AlgeriaKabyleNA5 families/8 familiesNAAkhavan S et al., 2007Akhavan S, Chafa O, Obame FN, Torchet MF, Reghis A, Fischer AM, Tapon-Bretaudière J, . Recurrence of a Phe31Ser mutation in the Gla domain of blood coagulation factor X, in unrelated Algerian families: a founder effect?. Eur. J. Haematol.. 2007; 78(5):405-9

References

Akhavan S, Chafa O, Obame FN, Torchet MF, Reghis A, Fischer AM, Tapon-Bretaudière J, Recurrence of a Phe31Ser mutation in the Gla domain of blood coagulation factor X, in unrelated Algerian families: a founder effect?Eur. J. Haematol.. 2007; 78(5):405-9