Variant: rs532178791 

    present in Gene: UBA5;NPHP3-ACAD11
    present in Chromosome: 3
    Position on Chromosome: 132665830
    Alleles of this Variant: A/G

rs532178791 in UBA5;NPHP3-ACAD11 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 PMID 27545681 2016 Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

PMID 27545674 2016 Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.