GATA2 GATA binding protein 2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 5 | 290 |
| Likely pathogenic | 0 | 136 |
| Benign | 0 | 86 |
| Likely benign | 0 | 992 |
| Conflicting classifications of pathogenicity | 0 | 110 |
| not provided | 80 | 0 |
| Uncertain significance | 7 | 1,360 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
392 |
 |
2,420 |
 |
0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
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Variants
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| 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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| 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 | DCML |
| SYNONYM | IMD21 |
| SYNONYM | MONOMAC |
| SYNONYM | NFE1B |
| MIM | 137295 OMIM |
| HGNC | HGNC:4171 HGNC |
| Ensembl | ENSG00000179348 Ensembl |
| AllianceGenome | HGNC:4171 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000430265.6 | hg38 | chr3 | 128,480,146 | 128,487,916 | 7,771 |
| ENST00000487848.6 | hg38 | chr3 | 128,479,427 | 128,488,530 | 9,104 |
| ENST00000341105.7 | hg38 | chr3 | 128,479,427 | 128,493,201 | 13,775 |
| ENST00000696466.1 | hg38 | chr3 | 128,479,427 | 128,493,186 | 13,760 |
| ENST00000487848.6 | hg19 | chr3 | 128,198,270 | 128,207,373 | 9,104 |
| ENST00000696466.1 | hg19 | chr3 | 128,198,270 | 128,212,029 | 13,760 |
| ENST00000341105.7 | hg19 | chr3 | 128,198,270 | 128,212,044 | 13,775 |
| ENST00000430265.6 | hg19 | chr3 | 128,198,989 | 128,206,759 | 7,771 |
| Key | Value |
|---|---|
| strand | - |
| start | 128,198,264 |
| Vogelstein | OG |
| Gene Symbol | GATA2 |
| Entrez GeneId | 2,624 |
| Chr Band | 3q21.3 |
| end | 128,212,029 |
| chr | chr3 |
| Name | GATA binding protein 2 |
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