Variant: rs121909675 

    present in Gene: GGCX
    present in Chromosome: 2
    Position on Chromosome: 85553045
    Alleles of this Variant: A/C

rs121909675 in GGCX gene and VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 PMID 15287948 2004 Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors.

PMID 9845520 1998 A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors.

PMID 11071668 2000 Novel mutation in the gamma-glutamyl carboxylase gene resulting in congenital combined deficiency of all vitamin K-dependent blood coagulation factors.

PMID 10934213 2000 Expression and characterization of the naturally occurring mutation L394R in human gamma-glutamyl carboxylase.