Variant: rs104893668 

    present in Gene: ST3GAL5
    present in Chromosome: 2
    Position on Chromosome: 85844542
    Alleles of this Variant: G/A

rs104893668 in ST3GAL5 gene and Amish Infantile Epilepsy Syndrome PMID 15502825 2004 Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

PMID 23436467 2013 Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency.

PMID 22990144 2013 Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.