This tab shows an overview of the mutation data [more details]
Gene Name:
SMO
Mutation Id:
COSM13150
AA Mutation:
p.T640A ( Substitution - Missense )
CDS Mutation:
c.1918A>G ( Substitution )
GRCh38:
Ensembl Contig View7:129211752..129211752
COSMIC Genome Browser:
COSMIC JBrowse 7:129211752..129211752
CDD:
NP_005622.1
Homologene:
4115, click hereto look at the multiple sequence alignment.
Ever confirmed somatic:
Yes
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
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
This tab shows studies associated with the selected mutation. [more details]
Study ID (COSS) Description