VHL LOSS Detail (hg38) (VHL)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:10,182,692-10,193,904 View the variant detail on this assembly version. |
| hg38 | chr3:10,141,008-10,152,220 |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| renal carcinoma | Temsirolimus | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 16341243 | Detail |
| renal cell carcinoma | Anti-VEGF Monoclonal Antibody | B |
Predictive
|
Does Not Support
|
Sensitivity/Response | Somatic | 4 | 28103578 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Preclinical studies linking the efficacy of mTOR inhibitor CCI-779 to VHL loss in vitro and in mouse... | CIViC Evidence | Detail |
| A meta-analysis to evaluate the association between the VHL alteration and clinical outcomes in pati... | CIViC Evidence | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- VHL
- Genome
- hg38
- Position
- chr3:10,141,008-10,152,220
- Variant Type
- cnv
- Variant (CIViC) (CIViC Variant)
- LOSS
- Transcript 1 (CIViC Variant)
- ENST00000256474.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/436
Genome browser