chr9:77794571:> Detail (hg38) (GNAQ)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:80,409,487-80,409,489 |
| hg38 | chr9:77,794,571-77,794,573 |
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 | Selumetinib | B |
Predictive
|
Does Not Support
|
Sensitivity/Response | Somatic | 3 | 24938562 | Detail |
| uveal melanoma | Refametinib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 23434733 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 101 patients with metastatic uveal melanoma were randomized 1:1 to receive selumetinib or chemothera... | CIViC Evidence | Detail |
| Phase 1 study of MAPK1/2 inhibitor BAY 86-9766. 53 patients were evaluated for efficacy, one patient... | 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
- chr9:77,794,571-77,794,573
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- Q209
- Transcript 1 (CIViC Variant)
- ENST00000286548.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/507
Genome browser