Variant: rs121908980 

    present in Gene: SLC37A4;TRAPPC4
    present in Chromosome: 11
    Position on Chromosome: 119025298
    Alleles of this Variant: C/T

rs121908980 in SLC37A4;TRAPPC4 gene and Glucose-6-phosphate transport defect PMID 10874322 2000 A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.

PMID 15669677 2004 Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.

PMID 11071391 2000 Mutation analysis in glycogen storage disease type 1 non-a.

PMID 15059622 2004 Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.

PMID 10518030 1999 Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.

PMID 15953877 2005 A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.

PMID 12409273 2002 Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.

PMID 19579760 2009 Glycogen storage disease type Ib: the first case in Taiwan.

PMID 9675154 1998 Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.

PMID 9856496 1998 Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib.

PMID 10931421 2000 Glycogen storage disease type Ib without neutropenia.

PMID 10923042 2000 Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.

PMID 9758626 1998 A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

PMID 10482875 1999 Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.

PMID 10482962 1999 The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

PMID 10026167 1999 Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.

PMID 9428641 1997 Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.

PMID 21629566 2011 A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia.

PMID 11949931 2002 Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.

PMID 9781688 1998 Structure and mutation analysis of the glycogen storage disease type 1b gene.