This tab shows an overview of the mutation data [more details]
Gene Name:
KIT
Mutation Id:
COSM28026
AA Mutation:
p.M541L (Substitution - Missense, position 541, ML)
CDS Mutation:
c.1621A>C (Substitution, position 1621, AC)
GRCh38:
4:54727298..54727298, view Ensembl Contig
COSMIC Genome Browser:
4:54727298..54727298, view in COSMIC JBrowse
CDD:
NP_001087241.1
Ever confirmed somatic:
Yes
FATHMM prediction:
Pathogenic (score 0.74)
This tab displays the distribution of mutated samples and tissue types. [more details]
This tab displays a table of muated samples, with tissue, histology and zygosity information. Publication information is also included, where available, with links to PUBMED. [more details]
Sample name Gene name Transcript Primary Tissue Histology Pubmed ID Zygosity Somatic Status Sample Source LOH Resistant Mutation Drugs
This tab displays a table of pathways affected by the mutation [more details]
SourcePathways
WikiPathwayKit Receptor Signaling Pathway
This tab displays a table of references for the mutation [more details]
Reference Title Author Year Journal Status COSMIC Pubmed