EIF2B4 eukaryotic translation initiation factor 2B subunit delta
Information
- Symbol
- EIF2B4
- Type
- protein-coding
- Description
- eukaryotic translation initiation factor 2B subunit delta
- Entrez Gene ID
- 8890
- Genome
- hg19
- Position
- chr2:27,587,266-27,593,193
- Genome
- hg38
- Position
- chr2:27,364,399-27,370,326
- MIM
- 606687 OMIM
- HGNC
- HGNC:3260 HGNC
- Ensembl
- ENSG00000115211 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 42 |
| Likely pathogenic | 1 | 22 |
| Benign | 0 | 50 |
| Likely benign | 0 | 496 |
| Conflicting classifications of pathogenicity | 0 | 26 |
| other | 1 | 0 |
| Uncertain significance | 0 | 212 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
72 |
 |
720 |
 |
20 |
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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| Category | : |
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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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| Category | : |
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| Search word | : | |
| 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
|
| Category | : |
|
| 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 | EIF-2B |
| SYNONYM | EIF2B |
| SYNONYM | EIF2Bdelta |
| SYNONYM | VWM4 |
| MIM | 606687 OMIM |
| HGNC | HGNC:3260 HGNC |
| Ensembl | ENSG00000115211 Ensembl |
| AllianceGenome | HGNC:3260 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000451130.6 | hg38 | chr2 | 27,364,399 | 27,370,013 | 5,615 |
| ENST00000347454.9 | hg38 | chr2 | 27,364,352 | 27,370,338 | 5,987 |
| ENST00000445933.6 | hg38 | chr2 | 27,364,381 | 27,370,334 | 5,954 |
| ENST00000493344.6 | hg38 | chr2 | 27,364,399 | 27,370,326 | 5,928 |
| ENST00000347454.9 | hg19 | chr2 | 27,587,219 | 27,593,205 | 5,987 |
| ENST00000445933.6 | hg19 | chr2 | 27,587,248 | 27,593,201 | 5,954 |
| ENST00000451130.6 | hg19 | chr2 | 27,587,266 | 27,592,880 | 5,615 |
| ENST00000493344.6 | hg19 | chr2 | 27,587,266 | 27,593,193 | 5,928 |
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