chr4:55524085:> Detail (hg19) (KIT)

Information

Genome

Assembly Position
hg19 chr4:55,524,085-55,606,881
hg38 chr4:54,657,918-54,740,715 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
melanoma Imatinib B Predictive Supports Sensitivity/Response Somatic 3 21690468 Detail
gastrointestinal stromal tumor Imatinib,Pictilisib D Predictive Supports Sensitivity/Response Somatic 2 23231951 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In a phase II clinical trial of 43 melanoma patients harboring KIT mutations or amplifications, imat... CIViC Evidence Detail
Human GISTs with different KIT mutations were grafted in 136 nude muce. Mice were then treated with ... 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
chr4:55,524,085-55,606,881
Variant Type
snv
Variant (CIViC) (CIViC Variant)
MUTATION
Transcript 1 (CIViC Variant)
ENST00000288135.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/388
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