chr4:54733156:C>G Detail (hg38) (KIT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:55,599,322-55,599,322 View the variant detail on this assembly version. |
| hg38 | chr4:54,733,156-54,733,156 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000222.2:c.2448C>G | NP_000213.1:p.Asp816Glu |
| NM_001093772.1:c.2436C>G | NP_001087241.1:p.Asp812Glu | |
| Ensemble | ENST00000288135.6:c.2448C>G | ENST00000288135.6:p.Asp816Glu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
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 | Sunitinib,Imatinib | D |
Predictive
|
Supports
|
Resistance | Somatic | 4 | 25239608 | Detail |
| gastrointestinal stromal tumor | Ponatinib | D |
Predictive
|
Does Not Support
|
Resistance | Somatic | 4 | 25239608 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Several preclinical studies were done in order to test the effects of various tyrosine kinase inhibi... | CIViC Evidence | Detail |
| A preclinical study was done in order to test the effects of a tyrosine kinase inhibitor (TKI) on th... | 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
- chr4:54,733,156-54,733,156
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- D816E
- Transcript 1 (CIViC Variant)
- ENST00000288135.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1559
Genome browser