chr19:3094410:> Detail (hg38) (GNA11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:3,094,408-3,124,002 |
| hg38 | chr19:3,094,410-3,124,004 |
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 | 1 | 26397223 | Detail |
| uveal melanoma | Trametinib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 22805292 | Detail |
| uveal melanoma | MEK Inhibitor PD0325901,Sotrastaurin Acetate | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 24141786 | Detail |
| uveal melanoma | Cabozantinib | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 28103611 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Preclinical study in uveal melanoma cell lines. Cell lines (n=5) with GNAQ (92.1, Omm1.3, Mel270, Me... | 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 |
| A randomized phase II trial assessing the efficacy of Cabozantinib in metastatic melanoma. 77 patien... | 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
- chr19:3,094,410-3,124,004
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- MUTATION
- Transcript 1 (CIViC Variant)
- ENST00000078429.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/506
Genome browser