PTCH1 LOH Detail (hg19) (PTCH1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:98,205,262-98,270,943 |
| hg38 | chr9:95,442,980-95,508,661 View the variant detail on this assembly version. |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| Brain Medulloblastoma | Vismodegib | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 26169613 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Loss-of-heterozygosity in SHH-driven medulloblastoma was associated with increased PFS under therapy... | 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
- PTCH1
- Genome
- hg19
- Position
- chr9:98,205,262-98,270,943
- Variant Type
- cnv
- Variant (CIViC) (CIViC Variant)
- LOH
- Transcript 1 (CIViC Variant)
- ENST00000331920.6
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/302
Genome browser