Variant: rs886039762

present in Gene: NPHP3-ACAD11;UBA5 present in Chromosome: 3 Position on Chromosome: 132675363 Alleles of this Variant: A/G

rs886039762 in NPHP3-ACAD11;UBA5 gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 PMID 26872069 2016 UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia.