Variant: rs387907312 

    present in Gene: SLC2A1
    present in Chromosome: 1
    Position on Chromosome: 42929918
    Alleles of this Variant: G/A

rs387907312 in SLC2A1 gene and CHOREOATHETOSIS/SPASTICITY, EPISODIC PMID 20482602 2011 EFNS guidelines on diagnosis and treatment of primary dystonias.

rs387907312 in SLC2A1 gene and GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE PMID 21832227 2011 Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.