MAF MAF bZIP transcription factor
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 4 | 26 |
| Likely pathogenic | 0 | 26 |
| Benign | 0 | 36 |
| Likely benign | 0 | 78 |
| Conflicting classifications of pathogenicity | 0 | 8 |
| Uncertain significance | 0 | 124 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
30 |
 |
232 |
 |
18 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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Variants
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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 | |||||||||||
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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 | ||||||||||||||
Search Word
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MGeND data only
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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 | AYGRP |
| SYNONYM | CCA4 |
| SYNONYM | CTRCT21 |
| SYNONYM | c-MAF |
| MIM | 177075 OMIM |
| HGNC | HGNC:6776 HGNC |
| Ensembl | ENSG00000178573 Ensembl |
| AllianceGenome | HGNC:6776 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000569649.1 | hg38 | chr16 | 79,585,843 | 79,599,902 | 14,060 |
| ENST00000393350.1 | hg38 | chr16 | 79,594,331 | 79,600,714 | 6,384 |
| ENST00000326043.5 | hg38 | chr16 | 79,593,838 | 79,600,737 | 6,900 |
| ENST00000569649.1 | hg19 | chr16 | 79,619,740 | 79,633,799 | 14,060 |
| ENST00000326043.5 | hg19 | chr16 | 79,627,735 | 79,634,634 | 6,900 |
| ENST00000393350.1 | hg19 | chr16 | 79,628,228 | 79,634,611 | 6,384 |
| Key | Value |
|---|---|
| strand | - |
| UniProt | BOTH |
| start | 79,627,744 |
| Gene Symbol | MAF |
| Entrez GeneId | 4,094 |
| Chr Band | 16q22-q23 |
| end | 79,634,621 |
| chr | chr16 |
| Name | v-maf musculoaponeurotic fibrosarcoma oncogene homolog |
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