Variant: rs1801175 

    present in Gene: G6PC
    present in Chromosome: 17
    Position on Chromosome: 42903947
    Alleles of this Variant: C/T

rs1801175 in G6PC gene and Glycogen Storage Disease PMID 8211187 1993 Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.

PMID 15316959 2004 Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.

rs1801175 in G6PC gene and Glycogen Storage Disease Type I PMID 25356975 2014 Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.

rs1801175 in G6PC gene and Glycogen storage disease type Ia PMID 7573034 1995 Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.

PMID 7623438 1995 Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab.

PMID 8182131 1994 Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.

PMID 10874313 2000 Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5.

PMID 7744838 1995 Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.

PMID 12093795 2002 The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis.

PMID 8734807 1996 Molecular prenatal diagnosis of glycogen storage disease type Ia.

PMID 25333069 2014 Disease variants in genomes of 44 centenarians.

PMID 8211187 1993 Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.

PMID 11739393 2002 The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase.

PMID 25308557 2015 Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I.

PMID 10612834 2000 Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations.

PMID 7814621 1995 Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.

PMID 21599942 2011 Glucose-6-phosphatase deficiency.

PMID 24385852 2013 Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib.

PMID 11310582 2001 Glycogen storage disease type Ia: molecular study in Brazilian patients.

PMID 9332655 1997 Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.

PMID 24082139 2013 Personalized genomic disease risk of volunteers.

PMID 12373566 2002 Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.

PMID 15316959 2004 Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.

PMID 10834516 2000 Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.

PMID 23312056 2013 Glycogen storage disease type Ia: linkage of glucose, glycogen, lactic acid, triglyceride, and uric acid metabolism.

PMID 18008183 2007 Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.