Variant: rs122453115 

    present in Gene: SLC6A8;PNCK
    present in Chromosome: X
    Position on Chromosome: 153688833
    Alleles of this Variant: G/A

rs122453115 in SLC6A8;PNCK gene and Creatine deficiency, X-linked PMID 11898126 2002 X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 17465020 2007 Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.

PMID 25861866 2015 Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.

PMID 17101918 2006 High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.

PMID 15154114 2004 High prevalence of SLC6A8 deficiency in X-linked mental retardation.

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

PMID 12210795 2002 X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

PMID 24123876 2013 Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.