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SMO (p.D473H)

Variant Data

Location

  • HGVS: ENST00000249373:c.1417G>C
  • Reference Version: GRCh37
  • Chromosome: 7
  • Start: 128849189
  • Stop: 128849189
  • Strand: 1
  • Transcript: ENST00000249373 (ensembl - 74_37)
  • Gene: SMO ( View drug interactions on DGIdb )

Information

Disease Data

Disease Source Batch Tags External Links
basal cell carcinoma Yauch et al., 2009, Science My Cancer Genome (View variants) pathogenic My Cancer Genome
medulloblastoma Yauch et al., 2009, Science My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
basal cell carcinoma Rudin, 2012, Clin. Cancer Res. My Cancer Genome (View variants) pathogenic My Cancer Genome
medulloblastoma Rudin, 2012, Clin. Cancer Res. My Cancer Genome (View variants) pathogeniclikely pathogenic My Cancer Genome
medulloblastoma Lee et al., 2012, Proc. Natl. Acad. Sci. U.S.A. CIViC Knowledgebase (View variants) Civic logo CIViC
basal cell carcinoma Atwood et al., 2015, Cancer Cell CIViC Knowledgebase (View variants) Civic logo CIViC
medulloblastoma Yauch et al., 2009, Science CIViC Knowledgebase (View variants) Civic logo CIViC

Drug Interaction Data

Therapeutic Context Pathway Effect Association Status Evidence Source
vismodegib activation gain-of-function case report emerging 19726788
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