Variant: rs121917865

present in Gene: IL4I1;NUP62 present in Chromosome: 19 Position on Chromosome: 49908636 Alleles of this Variant: T/G

rs121917865 in IL4I1;NUP62 gene and STRIATONIGRAL DEGENERATION, INFANTILE (disorder) PMID 16786527 2006 Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.