This tab shows an overview of the mutation data [more details]
Gene Name:
SMO
Mutation Id:
COSM13150
AA Mutation:
p.T640A (Substitution - Missense, position 640, TA)
CDS Mutation:
c.1918A>G (Substitution, position 1918, AG)
GRCh38:
7:129211752..129211752, view Ensembl Contig
COSMIC Genome Browser:
7:129211752..129211752, view in COSMIC JBrowse
CDD:
NP_005622.1
Homologene:
4115, view the multiple sequence alignment.
Ever confirmed somatic:
Yes
FATHMM prediction:
Pathogenic (score 1.00)
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
WikiPathwayGPCRs, Other
WikiPathwayHedgehog Signaling Pathway
This tab displays a table of references for the mutation [more details]
Reference Title Author Year Journal Status COSMIC Pubmed