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
RS201698049 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS201707833 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS2042659440 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2042665872 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation, Landau-Kleffner syndrome
RS2141130589 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS2141133924 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS2141312658 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2141631923 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2142387348 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2505959955 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2506111320 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS367543120 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS367543124 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS367543132 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS367543145 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS367548624 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS368026708 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS368221866 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS368406915 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS368881818 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Landau-Kleffner syndrome, Inborn genetic diseases
RS369878342 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS370306281 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS370754278 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS372058698 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS372083517 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS372353067 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, GRIN2A-related complex neurodevelopmental disorder
RS372628324 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS372649219 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS374637415 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS375160358 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS375260513 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS375291296 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS376029542 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS377152953 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS377712891 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS531782747 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Landau-Kleffner syndrome, Inborn genetic diseases
RS534440095 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS540445580 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS553783914 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS554338361 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS555768104 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, GRIN2A-related complex neurodevelopmental disorder, Landau-Kleffner syndrome
RS559488090 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS560057284 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS562833714 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS564039694 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS568484876 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS570907044 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
RS576585646 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS587780349 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS587780351 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
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