chr4:54657918:> Detail (hg38) (KIT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:55,524,085-55,606,881 |
| hg38 | chr4:54,657,918-54,740,715 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| endometrial cancer | Imatinib | C |
Predictive
|
Supports
|
Sensitivity/Response |
N/A
|
2 | 18607592 | Detail |
| endometrial cancer | Imatinib | C |
Predictive
|
Supports
|
Sensitivity/Response |
N/A
|
2 | 16487996 | Detail |
| gastrointestinal stromal tumor | Imatinib | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 18955451 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Case Report of a 42-year old patient with low-grade endometrial stromal sarcoma. IHC was focally pos... | CIViC Evidence | Detail |
| Case Report of a 41-year old patient with high-grade stromal endometrial sarcoma and a large abdomin... | CIViC Evidence | Detail |
| In a prospective phase III study (SWOG S0033/CALGB 150105) of 407 patients with gastrointestinal str... | 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
- chr4:54,657,918-54,740,715
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- EXPRESSION
- Transcript 1 (CIViC Variant)
- ENST00000288135.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/429
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