TAPBP TAP binding protein
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 34 |
| Likely benign | 0 | 190 |
| Conflicting classifications of pathogenicity | 0 | 8 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 314 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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56 |
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476 |
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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
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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| Search word | : | |
| 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 | MHC1D3 |
| SYNONYM | NGS17 |
| SYNONYM | TAPA |
| SYNONYM | TPN |
| SYNONYM | TPSN |
| MIM | 601962 OMIM |
| HGNC | HGNC:11566 HGNC |
| Ensembl | ENSG00000231925 Ensembl |
| AllianceGenome | HGNC:11566 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000434618.7 | hg38 | chr6 | 33,299,694 | 33,314,078 | 14,385 |
| ENST00000426633.6 | hg38 | chr6 | 33,303,573 | 33,314,212 | 10,640 |
| ENST00000699648.1 | hg38 | chr6 | 33,299,709 | 33,314,254 | 14,546 |
| ENST00000699649.1 | hg38 | chr6 | 33,299,711 | 33,312,809 | 13,099 |
| ENST00000699656.1 | hg38 | chr6 | 33,299,779 | 33,314,267 | 14,489 |
| ENST00000699657.1 | hg38 | chr6 | 33,299,861 | 33,314,254 | 14,394 |
| ENST00000699650.1 | hg38 | chr6 | 33,299,711 | 33,313,756 | 14,046 |
| ENST00000699651.1 | hg38 | chr6 | 33,299,711 | 33,313,905 | 14,195 |
| ENST00000699652.1 | hg38 | chr6 | 33,299,711 | 33,314,254 | 14,544 |
| ENST00000699654.1 | hg38 | chr6 | 33,299,714 | 33,314,222 | 14,509 |
| ENST00000489157.6 | hg38 | chr6 | 33,299,704 | 33,314,254 | 14,551 |
| ENST00000475304.5 | hg38 | chr6 | 33,301,685 | 33,314,251 | 12,567 |
| ENST00000434618.7 | hg19 | chr6 | 33,267,471 | 33,281,855 | 14,385 |
| ENST00000426633.6 | hg19 | chr6 | 33,271,350 | 33,281,989 | 10,640 |
| ENST00000475304.5 | hg19 | chr6 | 33,269,462 | 33,282,028 | 12,567 |
| ENST00000489157.6 | hg19 | chr6 | 33,267,481 | 33,282,031 | 14,551 |
| ENST00000699648.1 | hg19 | chr6 | 33,267,486 | 33,282,031 | 14,546 |
| ENST00000699649.1 | hg19 | chr6 | 33,267,488 | 33,280,586 | 13,099 |
| ENST00000699650.1 | hg19 | chr6 | 33,267,488 | 33,281,533 | 14,046 |
| ENST00000699651.1 | hg19 | chr6 | 33,267,488 | 33,281,682 | 14,195 |
| ENST00000699652.1 | hg19 | chr6 | 33,267,488 | 33,282,031 | 14,544 |
| ENST00000699654.1 | hg19 | chr6 | 33,267,491 | 33,281,999 | 14,509 |
| ENST00000699656.1 | hg19 | chr6 | 33,267,556 | 33,282,044 | 14,489 |
| ENST00000699657.1 | hg19 | chr6 | 33,267,638 | 33,282,031 | 14,394 |
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