chr9:95442980:> Detail (hg38) (PTCH1)

Information

Genome

Assembly Position
hg19 chr9:98,205,262-98,270,943 
hg38 chr9:95,442,980-95,508,661

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
cancer Vismodegib B Predictive Supports Sensitivity/Response Somatic 1 29320312 Detail
Brain Medulloblastoma Sonidegib B Predictive Supports Sensitivity/Response Somatic 4 24651015 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
The phase 2a MyPathway study assigned patients with HER2, EGFR, BRAF or SHH alterations to treatment... CIViC Evidence Detail
133 sonic-hedghog driven medulloblastomas were sequenced for alterations (WGS or WES). 60 cases exhi... 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
hg38
Position
chr9:95,442,980-95,508,661
Variant Type
snv
Variant (CIViC) (CIViC Variant)
MUTATION
Transcript 1 (CIViC Variant)
ENST00000331920.6
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/301
Genome browser