chr3:10182692:> Detail (hg19) (VHL)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:10,182,692-10,193,904 |
| hg38 | chr3:10,141,008-10,152,220 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| renal cell carcinoma | Pazopanib | B |
Predictive
|
Does Not Support
|
Sensitivity/Response | Somatic | 2 | 23881929 | Detail |
| clear cell renal cell carcinoma | B |
Prognostic
|
Supports
|
Better Outcome | Somatic | 4 | 18464292 | Detail | |
| clear cell renal cell carcinoma | B |
Prognostic
|
Supports
|
N/A | Somatic | 3 | 23620406 | Detail | |
| clear cell renal cell carcinoma | B |
Prognostic
|
Supports
|
Poor Outcome | Somatic | 3 | 11793370 | Detail | |
| renal cell carcinoma | Anti-VEGF Monoclonal Antibody | B |
Predictive
|
Supports
|
Resistance | Somatic | 4 | 28103578 | Detail |
| renal cell carcinoma | Everolimus | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 4 | 26951309 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| VHL mutations were evaluated in 78 tumors samples of patients with metastatic RCC treated with pazop... | CIViC Evidence | Detail |
| In patients with renal clear cell carcinoma, patients with VHL mutations had longer cancer-specific ... | CIViC Evidence | Detail |
| In renal clear cell carcinoma, patients with VHL mutations did not have a significant impact on canc... | CIViC Evidence | Detail |
| In patients with renal clear cell carcinoma, patients with loss of function VHL mutations had shorte... | CIViC Evidence | Detail |
| A meta-analysis to evaluate the association between the VHL alteration and clinical outcomes in pati... | CIViC Evidence | Detail |
| A randomized, open-label phase 2 study, encompassing 85 patients, to compare the efficacy of dual PI... | 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
- -
- Genome
- hg19
- Position
- chr3:10,182,692-10,193,904
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- LOSS-OF-FUNCTION
- Transcript 1 (CIViC Variant)
- ENST00000256474.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/159
- Variant (CIViC) (CIViC Variant)
- MUTATION
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/160
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