Variant: rs121434636 

    present in Gene: AUH
    present in Chromosome: 9
    Position on Chromosome: 91297993
    Alleles of this Variant: G/A

rs121434636 in AUH gene and 3-@METHYLGLUTACONIC ACIDURIA, TYPE I PMID 12434311 2002 Mutation analysis of AUH in two patients revealed a nonsense mutation (R197X) and a splice-site mutation (IVS8-1G-->A), demonstrating that mutations in AUH cause 3-methylglutaconic aciduria type I.

PMID 12655555 2003 Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.