DDX43 OVEREXPRESSION Detail (hg38) (DDX43)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:74,104,471-74,127,292 View the variant detail on this assembly version. |
| hg38 | chr6:73,394,748-73,417,569 |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
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,Trametinib,MEK Inhibitor PD0325901 | D |
Predictive
|
Supports
|
Resistance | Somatic | 4 | 24899684 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| MEK inhibitor-resistant (selumetinib, PD0325901, GSK1129212) uveal melanoma cell lines were created ... | 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
- DDX43
- Genome
- hg38
- Position
- chr6:73,394,748-73,417,569
- Variant Type
- cnv
- Variant (CIViC) (CIViC Variant)
- OVEREXPRESSION
- Transcript 1 (CIViC Variant)
- ENST00000370336.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/481
Genome browser