Variant: rs104894931 

    present in Gene: SLC16A2
    present in Chromosome: X
    Position on Chromosome: 74529355
    Alleles of this Variant: T/C

rs104894931 in SLC16A2 gene and Allan-Herndon-Dudley syndrome (AHDS) PMID 26426690 2015 Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation.

PMID 18636565 2009 Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations.

PMID 25380603 2015 Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene.

PMID 15889350 2005 Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

PMID 23550058 2013 Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution.

PMID 14661163 2004 A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.

PMID 25527620 2015 Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations.

PMID 15488219 2004 Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.

PMID 27805744 2017 Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.