VBP1 VHL binding protein 1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 2 |
| not provided | 7 | 0 |
| 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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6 |
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2 |
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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| 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 | HIBBJ46 |
| SYNONYM | PFD3 |
| SYNONYM | PFDN3 |
| SYNONYM | VBP-1 |
| MIM | 300133 OMIM |
| HGNC | HGNC:12662 HGNC |
| Ensembl | ENSG00000155959 Ensembl |
| AllianceGenome | HGNC:12662 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000535916.5 | hg38 | chrX | 155,197,007 | 155,239,044 | 42,038 |
| ENST00000625964.2 | hg38 | chrX | 155,208,904 | 155,239,810 | 30,907 |
| ENST00000286428.7 | hg38 | chrX | 155,216,460 | 155,239,841 | 23,382 |
| ENST00000535916.5 | hg19 | chrX | 154,425,284 | 154,467,325 | 42,042 |
| ENST00000625964.2 | hg19 | chrX | 154,437,182 | 154,468,091 | 30,910 |
| ENST00000286428.7 | hg19 | chrX | 154,444,737 | 154,468,122 | 23,386 |
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