chr9:80331003:> Detail (hg19) (GNAQ)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:80,331,003-80,646,374 |
| hg38 | chr9:77,716,087-78,031,458 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| uveal melanoma | JQ1 | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 26397223 | Detail |
| uveal melanoma | Trametinib | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 22805292 | Detail |
| uveal melanoma | Sotrastaurin Acetate,MEK Inhibitor PD0325901 | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 4 | 24141786 | Detail |
| uveal melanoma | Cabozantinib | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 28103611 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Preclinical study in uveal melanoma cell lines. Cell lines (n=4) with GNAQ mutation (92.1, Omm1.3, M... | CIViC Evidence | Detail |
| Phase 1 study of trametinib in 97 patients with melanoma (16 with uveal melanoma). Analysis in patie... | CIViC Evidence | Detail |
| Preclinical study in uveal melanoma. Increased PKC activity was found in uveal melanoma cell lines w... | CIViC Evidence | Detail |
| Patients with metastatic melanoma (n=77; 48 cutaneous, 23 uveal, 6 mucosal) were enrolled in a phase... | 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
- chr9:80,331,003-80,646,374
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- MUTATION
- Transcript 1 (CIViC Variant)
- ENST00000286548.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/505
Genome browser