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SMO W535L
GeneSMO
Variantmissense
Amino Acid ChangeW535L
DNA Change (Coding Nucleotide)1604G>T
Transcript ID (GRCh37/hg19)ENST00000249373
Codon535
Exon9
Genomic Coordinates (GRCh37/hg19)7:128850341-128850341
COSMIC ID13146
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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Tier 1
SMO
Variants
SMO W535L
Primary Sites
Brain, Infratentorial
Brain
Brain, Supratentorial
Tumor Types
Medulloblastoma
Interpretation

Some studies have demonstrated activity of sonic hedgehog pathway inhibitors in a subset of medulloblastomas harboring alterations in this pathway.

Last updated: 2017-01-20 03:30:12 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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