Variant: rs748318386 

    present in Gene: AUH
    present in Chromosome: 9
    Position on Chromosome: 91220824
    Alleles of this Variant: G/A;T

rs748318386 in AUH gene and Dysmorphic features PMID 16354225 2005 A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I.

PMID 20855850 2010 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.

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

PMID 15033206 2004 3-methylglutaconic aciduria type I in a boy with fever-associated seizures.