chr4:54727447:TTG> Detail (hg38) (KIT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:55,593,613-55,593,615 |
| hg38 | chr4:54,727,447-54,727,449 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000222.2:c.1679_1681delTTG | NP_000213.1:p.Val560del |
| NM_001093772.1:c.1670_1672delTTG | NP_001087241.1:p.Val557del | |
| Ensemble | ENST00000288135.6:c.1679_1681delTTG | ENST00000288135.6:p.Val560del |
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 |
|---|---|---|---|---|---|---|---|---|---|
| thymic carcinoma | Imatinib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 5 | 15201427 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In a patient with thymic carcinoma, the tumor expressing an activating mutation in exon 11 of KIT (V... | 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
- chr4:54,727,447-54,727,449
- Variant Type
- snv
- Reference Allele
- TTG
- Alternative Allele
- -
- Variant (CIViC) (CIViC Variant)
- V560DEL
- Transcript 1 (CIViC Variant)
- ENST00000288135.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/202
- Summary (CIViC Variant)
- V560 Resides within the Juxtamembrane domain on exon 11 of KIT. In melanoma this region is one 4 hotspots and is the 3rd highest recurrently mutated region. Mouse models have shown that mutations in this hotspot lead to constitutive phosphorylation of KIT which will induce a stronger activation of the PI3K pathway however it is currently unknown if deletions follow the same model. Case studies in Gastrointestinal Stromal Tumors with V560DEL have reported a sensitivity when treated with imatinib and regorafenib.
- Variant (CIViC) (CIViC Variant)
- V559DEL
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/966
Genome browser