TARDBP TAR DNA binding protein
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 8 | 32 |
| Likely pathogenic | 0 | 24 |
| Benign | 16 | 56 |
| Likely benign | 0 | 162 |
| Conflicting classifications of pathogenicity | 0 | 28 |
| not provided | 0 | 4 |
| Uncertain significance | 0 | 200 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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82 |
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358 |
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8 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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
| 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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| Category | : |
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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 | ALS10 |
| SYNONYM | TDP-43 |
| MIM | 605078 OMIM |
| HGNC | HGNC:11571 HGNC |
| Ensembl | ENSG00000120948 Ensembl |
| AllianceGenome | HGNC:11571 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000240185.8 | hg38 | chr1 | 11,012,654 | 11,025,492 | 12,839 |
| ENST00000649624.1 | hg38 | chr1 | 11,013,728 | 11,023,234 | 9,507 |
| ENST00000639083.1 | hg38 | chr1 | 11,012,424 | 11,023,609 | 11,186 |
| ENST00000315091.7 | hg38 | chr1 | 11,013,716 | 11,024,183 | 10,468 |
| ENST00000629725.2 | hg38 | chr1 | 11,012,622 | 11,023,248 | 10,627 |
| ENST00000616545.4 | hg38 | chr1 | 11,013,728 | 11,023,341 | 9,614 |
| ENST00000621790.4 | hg38 | chr1 | 11,013,728 | 11,023,341 | 9,614 |
| ENST00000240185.8 | hg19 | chr1 | 11,072,711 | 11,085,549 | 12,839 |
| ENST00000315091.7 | hg19 | chr1 | 11,073,773 | 11,084,240 | 10,468 |
| ENST00000621790.4 | hg19 | chr1 | 11,073,785 | 11,083,398 | 9,614 |
| ENST00000616545.4 | hg19 | chr1 | 11,073,785 | 11,083,398 | 9,614 |
| ENST00000629725.2 | hg19 | chr1 | 11,072,679 | 11,083,305 | 10,627 |
| ENST00000639083.1 | hg19 | chr1 | 11,072,481 | 11,083,666 | 11,186 |
| ENST00000649624.1 | hg19 | chr1 | 11,073,785 | 11,083,291 | 9,507 |
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