BUB3 BUB3 mitotic checkpoint protein
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| Likely benign | 0 | 318 |
| Uncertain significance | 0 | 420 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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10 |
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732 |
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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 | |||||||||||
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| 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 | BUB3L |
| SYNONYM | hBUB3 |
| MIM | 603719 OMIM |
| HGNC | HGNC:1151 HGNC |
| Ensembl | ENSG00000154473 Ensembl |
| AllianceGenome | HGNC:1151 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000368865.9 | hg38 | chr10 | 123,154,402 | 123,170,467 | 16,066 |
| ENST00000368859.6 | hg38 | chr10 | 123,154,402 | 123,165,212 | 10,811 |
| ENST00000368858.9 | hg38 | chr10 | 123,154,415 | 123,165,365 | 10,951 |
| ENST00000368859.6 | hg19 | chr10 | 124,913,918 | 124,924,728 | 10,811 |
| ENST00000368865.9 | hg19 | chr10 | 124,913,918 | 124,929,983 | 16,066 |
| ENST00000368858.9 | hg19 | chr10 | 124,913,931 | 124,924,881 | 10,951 |
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