This tab shows an overview of the mutation data [more details]
Gene Name:
PDGFRA
Mutation Id:
COSM22413
AA Mutation:
p.V824V (Substitution - coding silent, position 824, VV)
CDS Mutation:
c.2472C>T (Substitution, position 2472, CT)
GRCh38:
4:54285873..54285873, view Ensembl Contig
COSMIC Genome Browser:
4:54285873..54285873, view in COSMIC JBrowse
CDD:
NP_006197.1
Homologene:
31361, view the multiple sequence alignment.
Ever confirmed somatic:
Yes
FATHMM prediction:
Pathogenic (score 0.88)
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
Reactome Signaling by PDGF
WikiPathwayAngiogenesis
WikiPathwayFocal Adhesion
WikiPathwayOsteoblast
WikiPathwayRegulation of Actin Cytoskeleton
This tab displays a table of references for the mutation [more details]
Reference Title Author Year Journal Status COSMIC Pubmed