Variant: rs672601378 

    present in Gene: GRIN2B;LOC105369668
    present in Chromosome: 12
    Position on Chromosome: 13615149
    Alleles of this Variant: C/T

rs672601378 in GRIN2B;LOC105369668 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 PMID 27839871 2016 Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

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