chr4:55593612:> Detail (hg19) (KIT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:55,593,612-55,593,662 |
| hg38 | chr4:54,727,446-54,727,496 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| gastrointestinal stromal tumor | Regorafenib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 25239608 | Detail |
| gastrointestinal stromal tumor | Imatinib,Ponatinib | D |
Predictive
|
Does Not Support
|
Sensitivity/Response | Somatic | 4 | 25239608 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| A GIST430 patient derived cell line expressing KIT V560_L576del primary activating mutation demonstr... | CIViC Evidence | Detail |
| In the patient-derived cell line GIST430 harboring KIT V560_L576del primary activating mutation impl... | 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
- chr4:55,593,612-55,593,662
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- V560_L576DEL
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1550
Genome browser