Variant: rs200283734 

    present in Gene: FTCD
    present in Chromosome: 21
    Position on Chromosome: 46138593
    Alleles of this Variant: G/A

rs200283734 in FTCD gene and Glutamate formiminotransferase deficiency PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.