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 | |||||
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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 | |||
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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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 |
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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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