GATA1 GATA binding protein 1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 2 | 94 |
| Likely pathogenic | 0 | 28 |
| Benign | 0 | 71 |
| Likely benign | 0 | 170 |
| Conflicting classifications of pathogenicity | 0 | 26 |
| not provided | 28 | 4 |
| Uncertain significance | 0 | 266 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
64 |
 |
531 |
 |
10 |
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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| 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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| 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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| 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 | ERYF1 |
| SYNONYM | GATA-1 |
| SYNONYM | GF-1 |
| SYNONYM | GF1 |
| SYNONYM | HAEADA |
| SYNONYM | NF-E1 |
| SYNONYM | NFE1 |
| SYNONYM | XLANP |
| SYNONYM | XLTDA |
| SYNONYM | XLTT |
| MIM | 305371 OMIM |
| HGNC | HGNC:4170 HGNC |
| Ensembl | ENSG00000102145 Ensembl |
| AllianceGenome | HGNC:4170 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000376670.9 | hg38 | chrX | 48,786,590 | 48,794,311 | 7,722 |
| ENST00000651144.2 | hg38 | chrX | 48,786,562 | 48,794,311 | 7,750 |
| ENST00000696452.1 | hg38 | chrX | 48,786,562 | 48,794,311 | 7,750 |
| ENST00000696451.1 | hg38 | chrX | 48,786,562 | 48,794,311 | 7,750 |
| ENST00000696450.1 | hg38 | chrX | 48,786,540 | 48,794,311 | 7,772 |
| ENST00000376665.4 | hg38 | chrX | 48,786,573 | 48,794,311 | 7,739 |
| ENST00000696450.1 | hg19 | chrX | 48,644,948 | 48,652,718 | 7,771 |
| ENST00000651144.2 | hg19 | chrX | 48,644,970 | 48,652,718 | 7,749 |
| ENST00000696451.1 | hg19 | chrX | 48,644,970 | 48,652,718 | 7,749 |
| ENST00000696452.1 | hg19 | chrX | 48,644,970 | 48,652,718 | 7,749 |
| ENST00000376665.4 | hg19 | chrX | 48,644,981 | 48,652,718 | 7,738 |
| ENST00000376670.9 | hg19 | chrX | 48,644,998 | 48,652,718 | 7,721 |
| Key | Value |
|---|---|
| strand | + |
| start | 48,644,981 |
| Vogelstein | TSG |
| Gene Symbol | GATA1 |
| Entrez GeneId | 2,623 |
| Chr Band | Xp11.23 |
| end | 48,652,716 |
| chr | chrX |
| Name | GATA binding protein 1 (globin transcription factor 1) |
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