GRIA1 Chromosome 5
Glutamate ionotropic receptor AMPA type subunit 1
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What This Gene Does
Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Glutamate ionotropic receptor AMPA type subunits
Locus Type
gene with protein product
Location
5q33.2
Ensembl
ENSG00000155511
Associated Conditions (7)
Intellectual developmental disorder
autosomal dominant 67
GRIA1-related disorder
autosomal recessive 76
Non-syndromic intellectual disability
Autism spectrum disorder
Intellectual disability
Key Variants
RS1435095170
Likely pathogenic
Intellectual developmental disorder, autosomal dominant 67, Intellectual developmental disorder
Health Risk
RS149549228
Likely pathogenic
Health Risk
RS2149520942
Likely pathogenic
Intellectual developmental disorder, autosomal dominant 67, Intellectual developmental disorder
Health Risk
RS2479875652
Likely pathogenic
Intellectual developmental disorder, autosomal dominant 67, Intellectual developmental disorder
Health Risk
RS2480235236
Likely pathogenic
GRIA1-related disorder, GRIA1-related disorder
Health Risk
RS1173036683
Pathogenic
Intellectual developmental disorder, autosomal recessive 76, Intellectual developmental disorder
Health Risk
RS1561846159
Pathogenic/Likely pathogenic
Non-syndromic intellectual disability, Autism spectrum disorder, Intellectual developmental disorder
Health Risk
RS587776937
Pathogenic/Likely pathogenic
Intellectual disability, Intellectual developmental disorder, autosomal dominant 67
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1435095170 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal dominant 67, Intellectual developmental disorder |
| RS149549228 | Health Risk | Likely pathogenic | — |
| RS2149520942 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal dominant 67, Intellectual developmental disorder |
| RS2479875652 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal dominant 67, Intellectual developmental disorder |
| RS2480235236 | Health Risk | Likely pathogenic | GRIA1-related disorder, GRIA1-related disorder |
| RS1173036683 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 76, Intellectual developmental disorder |
| RS1561846159 | Health Risk | Pathogenic/Likely pathogenic | Non-syndromic intellectual disability, Autism spectrum disorder, Intellectual developmental disorder |
| RS587776937 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Intellectual developmental disorder, autosomal dominant 67 |