Variant: rs121909738 

    present in Gene: SLC2A1
    present in Chromosome: 1
    Position on Chromosome: 42929694
    Alleles of this Variant: T/C

rs121909738 in SLC2A1 gene and GLUT1 DEFICIENCY SYNDROME 1 PMID 30197081 2018 Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs.

PMID 25982116 2015 A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.

PMID 20574033 2010 Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.

PMID 19901175 2009 Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome.

PMID 24847886 2014 Crystal structure of the human glucose transporter GLUT1.

PMID 10980529 2000 Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.

PMID 15622525 2005 Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.

PMID 20129935 2010 Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

PMID 20221955 2009 Autosomal recessive inheritance of GLUT1 deficiency syndrome.

PMID 10227690 1999 Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome.

PMID 12325075 2002 Imaging the metabolic footprint of Glut1 deficiency on the brain.

PMID 11136715 2001 Autosomal dominant transmission of GLUT1 deficiency.

PMID 11603379 2001 Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.