GRIN2A Chromosome 16

Glutamate ionotropic receptor NMDA type subunit 2A
410 variants 410 Health Risk

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What This Gene Does
This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Gene Info
Gene Group
Glutamate ionotropic receptor NMDA type subunits
Locus Type
gene with protein product
Location
16p13.2
Ensembl
ENSG00000183454
Associated Conditions (19)
Landau-Kleffner syndrome
GRIN2A-related complex neurodevelopmental disorder
Inborn genetic diseases
Focal epilepsy
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Epileptic encephalopathy
Self-limited epilepsy with centrotemporal spikes
Intellectual disability
Complex neurodevelopmental disorder
CTCF-related neurodevelopmental disorder
Neurodevelopmental abnormality
Dystonia
intellectual disability and language impairment
See cases
Neoplasm
Seizure
Abnormal cerebral morphology
Neurodevelopmental disorder
Epilepsy
Key Variants
RS1006328489
Conflicting classifications of pathogenicity
Landau-Kleffner syndrome, Landau-Kleffner syndrome
Health Risk
RS1057518070
Conflicting classifications of pathogenicity
Landau-Kleffner syndrome, Landau-Kleffner syndrome
Health Risk
RS1057519248
Conflicting classifications of pathogenicity
Landau-Kleffner syndrome, Landau-Kleffner syndrome
Health Risk
RS1057522803
Conflicting classifications of pathogenicity
Landau-Kleffner syndrome, GRIN2A-related complex neurodevelopmental disorder, Landau-Kleffner syndrome
Health Risk
RS1057523027
Conflicting classifications of pathogenicity
Landau-Kleffner syndrome, Landau-Kleffner syndrome
Health Risk
RS1064794679
Conflicting classifications of pathogenicity
Landau-Kleffner syndrome, Landau-Kleffner syndrome
Health Risk
RS1064796658
Conflicting classifications of pathogenicity
Landau-Kleffner syndrome, Landau-Kleffner syndrome
Health Risk
RS1064796981
Conflicting classifications of pathogenicity
Landau-Kleffner syndrome, Landau-Kleffner syndrome
Health Risk
RS113847665
Conflicting classifications of pathogenicity
Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
Health Risk
RS1163766811
Conflicting classifications of pathogenicity
Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
Health Risk
RS1177789326
Conflicting classifications of pathogenicity
Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
Health Risk
RS1199762302
Conflicting classifications of pathogenicity
Inborn genetic diseases, Landau-Kleffner syndrome, Inborn genetic diseases
Health Risk
All Variants (410)
RSID Category Clinical Significance Conditions
RS587780353 Health Risk Conflicting classifications of pathogenicity Self-limited epilepsy with centrotemporal spikes, Landau-Kleffner syndrome, Inborn genetic diseases
RS61758996 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS745723771 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS746257794 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS746566593 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS746900457 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS746978701 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS747136651 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS747214620 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS74853460 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS748879665 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS749144109 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS74935155 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS750649530 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS75130648 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS752992319 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS753203288 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Intellectual disability, Landau-Kleffner syndrome
RS753547381 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS755577016 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS756663920 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS756930722 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS757351084 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS75761674 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS758864728 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS759145938 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Landau-Kleffner syndrome, Inborn genetic diseases
RS760522909 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS760885908 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS760972725 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS761296880 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS762981158 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS763315364 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS763500409 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS764292783 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS765104792 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS765257420 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS76549675 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS765614514 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS765986049 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS766574975 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Landau-Kleffner syndrome, Inborn genetic diseases
RS768958947 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS769657047 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS77029288 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, GRIN2A-related complex neurodevelopmental disorder
RS770966136 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Intellectual disability, Landau-Kleffner syndrome
RS771168389 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS772589363 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS772691866 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS774419037 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Intellectual disability, Landau-Kleffner syndrome
RS775262289 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS775422876 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS775540481 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
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