GRIN1 Chromosome 9
Glutamate ionotropic receptor NMDA type subunit 1
Upload your DNA to see your personal genotypes for variants in GRIN1.
What This Gene Does
The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple subunits arranged to form a ligand-gated ion channel. These subunits play a key role in the plasticity of synapses, which is believed to underlie memory and learning. Cell-specific factors are thought to control expression of different isoforms, possibly contributing to the functional diversity of the subunits. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Glutamate ionotropic receptor NMDA type subunits
Locus Type
gene with protein product
Location
9q34.3
Ensembl
ENSG00000176884
Associated Conditions (17)
Neurodevelopmental disorder with or without hyperkinetic movements and seizures
autosomal dominant
Inborn genetic diseases
GRIN1-related disorder
autosomal recessive
Intellectual disability
Developmental and epileptic encephalopathy 101
Neurodevelopmental delay
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITH OR WITHOUT SEIZURES
AUTOSOMAL RECESSIVE
Self-limited epilepsy with centrotemporal spikes
Neurodevelopmental disorder
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND WITH OR WITHOUT SEIZURES
AUTOSOMAL DOMINANT
Developmental and epileptic encephalopathy
1
Seizure
Key Variants
RS1057521991
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Inborn genetic diseases
Health Risk
RS1064795712
Conflicting classifications of pathogenicity
GRIN1-related disorder, GRIN1-related disorder
Health Risk
RS1159926920
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures
Health Risk
RS1186161085
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Inborn genetic diseases
Health Risk
RS1187375556
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, GRIN1-related disorder
Health Risk
RS1293947350
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures
Health Risk
RS1328780843
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Inborn genetic diseases
Health Risk
RS1347697507
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures
Health Risk
RS140422926
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Inborn genetic diseases
Health Risk
RS140672142
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Inborn genetic diseases
Health Risk
RS141473515
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Inborn genetic diseases
Health Risk
RS141704101
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures
Health Risk
All Variants (153)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS869312865 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, autosomal recessive |
| RS878853143 | Health Risk | Likely pathogenic | Intellectual disability, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
| RS1060500046 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, GRIN1-related disorder |
| RS1064797027 | Health Risk | Pathogenic | — |
| RS1064797355 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS1131691590 | Health Risk | Pathogenic | — |
| RS1554770054 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS1554770057 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 101, Developmental and epileptic encephalopathy 101 |
| RS1554770064 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS1554770185 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS1554770248 | Health Risk | Pathogenic | — |
| RS1554770258 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554770262 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS1554770624 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS1554770659 | Health Risk | Pathogenic | Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes |
| RS1588727276 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS1588735247 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS1833357461 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS1833614590 | Health Risk | Pathogenic | Inborn genetic diseases, Intellectual disability, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS1833614725 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS1833621434 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS2131216928 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 101, Developmental and epileptic encephalopathy 101 |
| RS2131217643 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS2131291544 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS2131297379 | Health Risk | Pathogenic | — |
| RS2131297434 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS2131298613 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS2131299136 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS2131302722 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS2538507902 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS2538608656 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS2538623861 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS2538636884 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS2538637344 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS2538639267 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS2538640589 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, autosomal dominant |
| RS2538642665 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS2538647858 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS2538649281 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS387906635 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS766786160 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Inborn genetic diseases |
| RS771610568 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS797044925 | Health Risk | Pathogenic | Inborn genetic diseases, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
| RS1161768105 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS1393555703 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| RS1451230055 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder |
| RS1554770046 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
| RS1554770243 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Developmental and epileptic encephalopathy |
| RS1554770667 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
| RS1564365418 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, Neurodevelopmental disorder with or without hyperkinetic movements and seizures |