chr4:55594221:> Detail (hg19) (KIT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:55,594,221-55,594,223 |
| hg38 | chr4:54,728,055-54,728,057 |
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
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| KIT inhibitor imatinib works against KIT mutant-transformed melanocytes but not against KIT wild typ... | MMMP | Detail |
| Mucosal melanoma; no active control trial (historical comparison) | 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
- chr4:55,594,221-55,594,223
- Variant Type
- snv
- Reference Amino Acid
- K
- Alternative Amino Acid
- E
Genome browser