Variant: rs878854615 

    present in Gene: ST3GAL5-AS1;ST3GAL5
    present in Chromosome: 2
    Position on Chromosome: 85888823
    Alleles of this Variant: C/G

rs878854615 in ST3GAL5-AS1;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 27232954 2016 GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.

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