GRIN2D glutamate ionotropic receptor NMDA type subunit 2D
Information
- Symbol
- GRIN2D
- Type
- protein-coding
- Description
- glutamate ionotropic receptor NMDA type subunit 2D
- Entrez Gene ID
- 2906
- Genome
- hg19
- Position
- chr19:48,896,925-48,948,188
- Genome
- hg38
- Position
- chr19:48,393,668-48,444,931
- MIM
- 602717 OMIM
- HGNC
- HGNC:4588 HGNC
- Ensembl
- ENSG00000105464 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 1 | 14 |
| Likely pathogenic | 2 | 18 |
| Benign | 0 | 66 |
| Likely benign | 0 | 850 |
| Conflicting classifications of pathogenicity | 0 | 58 |
| Uncertain significance | 0 | 1,150 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
206 |
 |
1,854 |
 |
22 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | DEE46 |
| SYNONYM | EB11 |
| SYNONYM | EIEE46 |
| SYNONYM | GluN2D |
| SYNONYM | NMDAR2D |
| SYNONYM | NR2D |
| MIM | 602717 OMIM |
| HGNC | HGNC:4588 HGNC |
| Ensembl | ENSG00000105464 Ensembl |
| AllianceGenome | HGNC:4588 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000263269.4 | hg38 | chr19 | 48,393,668 | 48,444,931 | 51,264 |
| ENST00000263269.4 | hg19 | chr19 | 48,896,925 | 48,948,188 | 51,264 |
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