chr4:54727420:CCATGTATGAAGTAC> Detail (hg38) (KIT)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:55,593,586-55,593,600 |
hg38 | chr4:54,727,420-54,727,434 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000222.2:c.1652_1666delCCATGTATGAAGTAC | NP_000213.1:p.Pro551_Val555del |
NM_001093772.1:c.1643_1657delCCATGTATGAAGTAC | NP_001087241.1:p.Pro548_Val552del | |
Ensemble | ENST00000288135.6:c.1652_1666delCCATGTATGAAGTAC | ENST00000288135.6:p.Pro551_Val555del |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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1998-01-23 | no assertion criteria provided | gastrointestinal stromal tumor |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.760 | Gastrointestinal Stromal Tumors | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000222.3(KIT):c.1652_1666del (p.Pro551_Val555del) AND Gastrointestinal stromal tumor | ClinVar | Detail |
NA | DisGeNET | 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
- rs587776804 dbSNP
- Genome
- hg38
- Position
- chr4:54,727,420-54,727,434
- Variant Type
- snv
- Reference Allele
- CCATGTATGAAGTAC
- Alternative Allele
- -
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