IRF4 interferon regulatory factor 4
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 4 |
| Benign | 0 | 66 |
| Likely benign | 0 | 236 |
| Affects | 0 | 2 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| not provided | 7 | 0 |
| Uncertain significance | 0 | 226 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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38 |
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490 |
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2 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
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Variants
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
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| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
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| 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 | LSIRF |
| SYNONYM | MUM1 |
| SYNONYM | NF-EM5 |
| SYNONYM | SHEP8 |
| MIM | 601900 OMIM |
| HGNC | HGNC:6119 HGNC |
| Ensembl | ENSG00000137265 Ensembl |
| AllianceGenome | HGNC:6119 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000696871.1 | hg38 | chr6 | 391,739 | 407,978 | 16,240 |
| ENST00000380956.9 | hg38 | chr6 | 391,752 | 411,443 | 19,692 |
| ENST00000696871.1 | hg19 | chr6 | 391,739 | 407,978 | 16,240 |
| ENST00000380956.9 | hg19 | chr6 | 391,752 | 411,443 | 19,692 |
| Key | Value |
|---|---|
| strand | + |
| start | 391,738 |
| Gene Symbol | IRF4 |
| Entrez GeneId | 3,662 |
| Chr Band | 6p25-p23 |
| end | 411,442 |
| chr | chr6 |
| Name | interferon regulatory factor 4 |
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