Variant: rs397514555 

    present in Gene: GRIN2B;LOC105369668
    present in Chromosome: 12
    Position on Chromosome: 13615626
    Alleles of this Variant: C/T

rs397514555 in GRIN2B;LOC105369668 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 PMID 20890276 2010 Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

PMID 27839871 2016 Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

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

PMID 24863970 2014 Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 28095420 2017 Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.