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
RS1006328489 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1057518070 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1057519248 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1057522803 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, GRIN2A-related complex neurodevelopmental disorder, Landau-Kleffner syndrome
RS1057523027 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1064794679 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1064796658 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1064796981 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS113847665 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS1163766811 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS1177789326 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS1199762302 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Landau-Kleffner syndrome, Inborn genetic diseases
RS1200593226 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1230714956 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1243412120 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1273711716 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1277391984 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1282664179 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1285592726 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS1306036000 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, GRIN2A-related complex neurodevelopmental disorder, Landau-Kleffner syndrome
RS1399604502 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS141912603 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, GRIN2A-related complex neurodevelopmental disorder
RS142113044 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS142670870 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1427858640 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1433795312 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS143594020 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, GRIN2A-related complex neurodevelopmental disorder
RS143693526 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1445598953 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS145063086 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Focal epilepsy, Inborn genetic diseases
RS145495027 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS1455515948 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS145956175 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, GRIN2A-related complex neurodevelopmental disorder
RS148669437 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS148827608 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Landau-Kleffner syndrome, Inborn genetic diseases
RS149698593 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS150574045 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, GRIN2A-related complex neurodevelopmental disorder, Landau-Kleffner syndrome
RS1555482611 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS1555483699 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555488093 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1567329011 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS183029507 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1900693709 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1900699130 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, GRIN2A-related complex neurodevelopmental disorder, Landau-Kleffner syndrome
RS1900773387 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Landau-Kleffner syndrome, Inborn genetic diseases
RS199784503 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, GRIN2A-related complex neurodevelopmental disorder
RS199942034 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Landau-Kleffner syndrome, Inborn genetic diseases
RS199975988 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS200526162 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS201072838 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
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