chr4:55523434:> Detail (hg19) (KIT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:55,523,434-55,606,949 |
| hg38 | chr4:54,657,267-54,740,783 |
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 | Imatinib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 18955451 | Detail |
| gastrointestinal stromal tumor | Imatinib | C |
Predictive
|
Does Not Support
|
Sensitivity/Response | Somatic | 1 | 18955451 | Detail |
| gastrointestinal stromal tumor | Imatinib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 1 | 18955451 | Detail |
| gastrointestinal stromal tumor | Regorafenib | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 27371698 | Detail |
| gastrointestinal stromal tumor | Sunitinib | C |
Predictive
|
Supports
|
Resistance | Somatic | 2 | 18955458 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| This patient was part of a larger cohort of 397 patients with incurable (i.e. metastatic or unresect... | CIViC Evidence | Detail |
| This patient was part of a larger cohort of 397 patients with incurable (i.e. metastatic or unresect... | CIViC Evidence | Detail |
| This patient was from a larger cohort of 397 patients with incurable (i.e. metastatic or unresectabl... | CIViC Evidence | Detail |
| This phase II clinical trial of regorafenib (NCT01068769) examined the long term safety and efficacy... | CIViC Evidence | Detail |
| Patient 36 from a larger cohort of genotyped patients (n= 78) with imatinib resistant or intolerant ... | CIViC Evidence | Detail |
| Mucosal melanoma; no active control trial (historical comparison). Sorafenib: BRAF CRAF VEGFR PDGFR ... | MMMP | Detail |
| Acral and mucosal melanoma; no active control trial (historical comparison) | MMMP | Detail |
| Uveal melanoma (molecularly unselected patients) | MMMP | Detail |
| Metastatic melanoma (molecularly unselected patients): no objective tumor response was observed | MMMP | 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
- chr4:55,523,434-55,606,949
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- W557_V559insC
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1498
- Variant (CIViC) (CIViC Variant)
- T417_D419DELTYDINSI
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1546
- Variant (CIViC) (CIViC Variant)
- T417_D419delinsY
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2620
- Variant (CIViC) (CIViC Variant)
- F506_F508DUP
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2621
- Variant (CIViC) (CIViC Variant)
- K484_G487DEL
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2622
- Variant (CIViC) (CIViC Variant)
- WILDTYPE
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2651
- Variant (CIViC) (CIViC Variant)
- V555_V559DEL
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2695
- Variant (CIViC) (CIViC Variant)
- P577_D579DEL
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2738
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