chr7:128849189:G>C Detail (hg19) (SMO)

Information

Genome

Assembly Position
hg19 chr7:128,849,189-128,849,189
hg38 chr7:129,209,348-129,209,348 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005631.4:c.1417G>C NP_005622.1:p.Asp473His
Ensemble ENST00000249373.8:c.1417G>C ENST00000249373.8:p.Asp473His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 601500 OMIM
HGNC 11119 HGNC
Ensembl ENSG00000128602 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM34198 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-10-02 no assertion criteria provided medulloblastoma somatic Detail
Pathogenic 2016-03-10 no assertion criteria provided basal cell carcinoma somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
Brain Medulloblastoma Patidegib D Predictive Supports Sensitivity/Response Somatic 3 22550175 Detail
Brain Medulloblastoma Vismodegib C Predictive Supports Resistance Somatic 3 19726788 Detail
basal cell carcinoma Vismodegib D Predictive Supports Resistance Somatic 3 25759020 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Saridegib treatment induced tumor reduction and significantly prolonged survival in a Shh-driven mou... CIViC Evidence Detail
In this case report, the D473H mutation was reported as an acquired mechanism of resistance to the h... CIViC Evidence Detail
D473 mutations were identified in 5/30 resistant basal cell carcinomas. Crystal structure indicated ... CIViC Evidence Detail
NM_005631.5(SMO):c.1417G>C (p.Asp473His) AND Medulloblastoma ClinVar Detail
NM_005631.5(SMO):c.1417G>C (p.Asp473His) AND Basal cell carcinoma ClinVar 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
-
dbSNP
rs17710891 dbSNP
Genome
hg19
Position
chr7:128,849,189-128,849,189
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
D473H
Transcript 1 (CIViC Variant)
ENST00000249373.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/299
Genome browser