Variant: rs761533681 

    present in Gene: LINC02245;SLC1A4;LOC107984063
    present in Chromosome: 2
    Position on Chromosome: 65020916
    Alleles of this Variant: C/T

rs761533681 in LINC02245;SLC1A4;LOC107984063 gene and Dysmorphic features PMID 25930971 2015 A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.

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

PMID 19963421 2010 L-serine synthesis in the central nervous system: a review on serine deficiency disorders.

PMID 26041762 2015 Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.

PMID 1395931 1992 Calmodulin and protein kinase C cross-talk: the MARCKS protein is an actin filament and plasma membrane cross-linking protein regulated by protein kinase C phosphorylation and by calmodulin.

PMID 27193218 2016 Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.

rs761533681 in LINC02245;SLC1A4;LOC107984063 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 25930971 2015 A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.

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