Variant: rs201278558 

    present in Gene: LINC02245;LOC107984063;SLC1A4
    present in Chromosome: 2
    Position on Chromosome: 65010729
    Alleles of this Variant: G/A

rs201278558 in LINC02245;LOC107984063;SLC1A4 gene and SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY PMID 26041762 2015 Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.

PMID 26138499 2015 SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.

PMID 25930971 2015 A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.