Variant: rs1555103971 

    present in Gene: GRIN2B
    present in Chromosome: 12
    Position on Chromosome: 13571888
    Alleles of this Variant: C/T

rs1555103971 in GRIN2B gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

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

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

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

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.

rs1555103971 in GRIN2B gene and Muscle hypotonia PMID 27605359 2016 Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.

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

PMID 28377535 2017 GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

PMID 23933820 2013 GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.

PMID 24272827 2014 GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.

PMID 23718928 2013 Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene.

PMID 24126926 2014 Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders.

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

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 23933819 2013 Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.

PMID 24999380 2014 Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders.

PMID 20890276 2010 Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

PMID 22833210 2011 Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.

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

PMID 21572417 2011 Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

PMID 22796429 2013 The NMDA receptor as a target for cognitive enhancement.

PMID 17357078 2007 Most rare missense alleles are deleterious in humans: implications for complex disease and association studies.