HMGA1 high mobility group AT-hook 1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 4 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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10 |
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0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| 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
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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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| 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 | HMG-R |
| SYNONYM | HMGA1A |
| SYNONYM | HMGIY |
| MIM | 600701 OMIM |
| HGNC | HGNC:5010 HGNC |
| Ensembl | ENSG00000137309 Ensembl |
| AllianceGenome | HGNC:5010 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000401473.7 | hg38 | chr6 | 34,236,873 | 34,246,231 | 9,359 |
| ENST00000374116.3 | hg38 | chr6 | 34,238,791 | 34,246,230 | 7,440 |
| ENST00000311487.9 | hg38 | chr6 | 34,236,873 | 34,246,231 | 9,359 |
| ENST00000447654.5 | hg38 | chr6 | 34,236,873 | 34,246,230 | 9,358 |
| ENST00000703808.1 | hg38 | chr6 | 34,236,920 | 34,244,979 | 8,060 |
| ENST00000703809.1 | hg38 | chr6 | 34,240,737 | 34,246,230 | 5,494 |
| ENST00000347617.10 | hg38 | chr6 | 34,236,873 | 34,246,231 | 9,359 |
| ENST00000447654.5 | hg19 | chr6 | 34,204,650 | 34,214,007 | 9,358 |
| ENST00000311487.9 | hg19 | chr6 | 34,204,650 | 34,214,008 | 9,359 |
| ENST00000347617.10 | hg19 | chr6 | 34,204,650 | 34,214,008 | 9,359 |
| ENST00000401473.7 | hg19 | chr6 | 34,204,650 | 34,214,008 | 9,359 |
| ENST00000703808.1 | hg19 | chr6 | 34,204,697 | 34,212,756 | 8,060 |
| ENST00000374116.3 | hg19 | chr6 | 34,206,568 | 34,214,007 | 7,440 |
| ENST00000703809.1 | hg19 | chr6 | 34,208,514 | 34,214,007 | 5,494 |
| Key | Value |
|---|---|
| strand | + |
| start | 34,204,576 |
| Gene Symbol | HMGA1 |
| Entrez GeneId | 3,159 |
| Chr Band | 6p21 |
| end | 34,214,007 |
| chr | chr6 |
| Name | high mobility group AT-hook 1 |
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