MSH2 LOSS Detail (hg38) (MSH2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:47,630,108-47,710,367 View the variant detail on this assembly version. |
| hg38 | chr2:47,402,969-47,483,228 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| transitional cell carcinoma | Durvalumab,Anti-PD-1 Monoclonal Antibody MEDI0680 | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 26674132 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Case report of a 45-year old woman of Japanese descent with recurrent urothelial carcinoma. The pati... | 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
- MSH2
- Genome
- hg38
- Position
- chr2:47,402,969-47,483,228
- Variant Type
- cnv
- Variant (CIViC) (CIViC Variant)
- LOSS
- Transcript 1 (CIViC Variant)
- ENST00000233146.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/808
Genome browser