Variant: rs122453113 

    present in Gene: SLC6A8
    present in Chromosome: X
    Position on Chromosome: 153694577
    Alleles of this Variant: C/T

rs122453113 in SLC6A8 gene and Muscle hypotonia PMID 15234334 2004 Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.

PMID 16738945 2006 X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

PMID 28065824 2017 Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.

PMID 24137762 2010 The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.

PMID 23644449 2013 Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

PMID 24190795 2014 A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.

PMID 20846889 2010 Treatment of intractable epilepsy in a female with SLC6A8 deficiency.

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

PMID 20528887 2011 Clinical features and X-inactivation in females heterozygous for creatine transporter defect.

PMID 10893433 2000 Creatine and creatinine metabolism.

PMID 27081545 2015 A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.