chr9:132891348:> Detail (hg38) (TSC1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:135,766,735-135,820,008 |
| hg38 | chr9:132,891,348-132,944,621 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| bladder carcinoma | Everolimus | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 22923433 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Tumors expressing TSC1 or TSC2 mutations show notably more sensitivity to everolimus than their wild... | 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
- hg38
- Position
- chr9:132,891,348-132,944,621
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- LOSS-OF-FUNCTION
- Transcript 1 (CIViC Variant)
- ENST00000298552.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/125
- Summary (CIViC Variant)
- In a small cohort study of bladder cancer, patients with TSC1 mutations showed better responses to and increased treatment duration tolerance with the mTOR inhibitor everolimus. Additionally, patient-derived bladder cancer cell lines with TSC1 or TSC2 mutations are much more sensitive to everolimus treatment than TSC1/TSC2 wildtype cells.
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