chr7:128828713:> Detail (hg19) (SMO)

Information

Genome

Assembly Position
hg19 chr7:128,828,713-128,853,386
hg38 chr7:129,188,872-129,213,545 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
basal cell carcinoma Sonidegib,Vismodegib B Predictive Supports Resistance Somatic 2 26546616 Detail
cancer Vismodegib B Predictive Does Not Support Sensitivity/Response Somatic 2 29320312 Detail
basal cell carcinoma Vismodegib B Predictive Supports Resistance Somatic 4 25759020 Detail
basal cell carcinoma PSI,Arsenic Trioxide D Predictive Supports Sensitivity/Response Somatic 4 25759020 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Study explored the response to the SMO inhibitor sonidegib (LDE225) in a cohort of 9 patients with a... CIViC Evidence Detail
The phase 2a MyPathway study assigned patients with HER2, EGFR, BRAF or SHH alterations to treatment... CIViC Evidence Detail
In basal cell carcinoma, H231R, D473G, W281C and Q477E mutations conferred resistance to SMO-inhibit... CIViC Evidence Detail
Basal cell carcinomas with ligand-binding pocket or constitutively active mutations in the SMO gene ... CIViC Evidence Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr7:128,828,713-128,853,386
Variant Type
snv
Variant (CIViC) (CIViC Variant)
MUTATION
Transcript 1 (CIViC Variant)
ENST00000249373.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/300
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