TBPL1 TATA-box binding protein like 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| 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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4 |
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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
| 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 | MGC:8389 |
| SYNONYM | MGC:9620 |
| SYNONYM | STUD |
| SYNONYM | TLF |
| SYNONYM | TLP |
| SYNONYM | TRF2 |
| MIM | 605521 OMIM |
| HGNC | HGNC:11589 HGNC |
| Ensembl | ENSG00000028839 Ensembl |
| AllianceGenome | HGNC:11589 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000613034.4 | hg38 | chr6 | 133,952,170 | 133,987,499 | 35,330 |
| ENST00000237264.9 | hg38 | chr6 | 133,953,224 | 133,990,432 | 37,209 |
| ENST00000367871.5 | hg38 | chr6 | 133,953,195 | 133,984,723 | 31,529 |
| ENST00000613034.4 | hg19 | chr6 | 134,273,308 | 134,308,637 | 35,330 |
| ENST00000367871.5 | hg19 | chr6 | 134,274,333 | 134,305,861 | 31,529 |
| ENST00000237264.9 | hg19 | chr6 | 134,274,362 | 134,311,570 | 37,209 |
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