chr4:55593613:TTG> Detail (hg19) (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 |
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Variant entry | 2 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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other |
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MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
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small intestine, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
[No Data.]
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
thymic carcinoma | Imatinib | C |
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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
- hg19
- Position
- chr4:55,593,613-55,593,615
- 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
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