chr4:55599332:G>T Detail (hg19) (KIT)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:55,599,332-55,599,332 |
hg38 | chr4:54,733,166-54,733,166 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001093772.1:c.2446G>T | NP_001087241.1:p.Asp816Tyr |
NM_000222.2:c.2458G>T | NP_000213.1:p.Asp820Tyr | |
Ensemble | ENST00000412167.7:c.2446G>T | ENST00000412167.7:p.Asp816Tyr |
Summary
MGeND
Clinical significance |
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Variant entry | 4 |
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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small intestine, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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bronchus or lung, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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Acute myeloblastic leukaemia |
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MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
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other |
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MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
ClinVar
CIViC
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
FFPE tumor specimens from 295 melanoma patients were screened for KIT amplification and mutation. Of... | CIViC Evidence | Detail |
28 acral or mucosal melanomas were examined for KIT expression and mutations (exons 11, 13, 17, and ... | CIViC Evidence | Detail |
This retrospective study of a phase 2 clinical trial (NCT01068769) examined regorafenib safety and e... | CIViC Evidence | Detail |
NM_000222.3(KIT):c.2458G>T (p.Asp820Tyr) AND Melanoma | ClinVar | Detail |
NM_000222.3(KIT):c.2458G>T (p.Asp820Tyr) AND Gastrointestinal stromal tumor | ClinVar | 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
- -
- dbSNP
- rs1057519710 dbSNP
- Genome
- hg19
- Position
- chr4:55,599,332-55,599,332
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- D820Y
- Transcript 1 (CIViC Variant)
- ENST00000288135.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/986
Genome browser