present in Gene: UROC1
present in Chromosome: 3
Position on Chromosome: 126498141
Alleles of this Variant: G/A
rs137852795 in
UROC1 gene and
Urocanase deficiency
PMID 19304569 2009 This report describes the first putative mutations, p.L70P and p.R450C, in the coding region of the UROC1 gene in a girl with urocanic aciduria presenting with mental retardation and intermittent ataxia.