Variant: rs1244824806 

    present in Gene: GATM
    present in Chromosome: 15
    Position on Chromosome: 45362144
    Alleles of this Variant: G/A

rs1244824806 in GATM gene and Arginine:Glycine Amidinotransferase Deficiency PMID 23770102 2013 Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency.

PMID 27233232 2016 Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.

PMID 23660394 2013 Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.

PMID 20682460 2011 l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation.

PMID 22386973 2012 Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency.

PMID 11555793 2001 Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.

PMID 26490222 2015 Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.