SMAD4 LOSS Detail (hg38) (SMAD4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:48,556,583-48,611,409 View the variant detail on this assembly version. |
| hg38 | chr18:51,030,213-51,085,039 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| pancreatic cancer | B |
Prognostic
|
Supports
|
Poor Outcome | Somatic | 3 | 19273710 | Detail | |
| colorectal cancer | Fluorouracil | B |
Predictive
|
Supports
|
Resistance |
N/A
|
3 | 12237773 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Study employed a rapid autopsy technique on a cohort of 76 patients with pancreatic cancer and explo... | CIViC Evidence | Detail |
| A retrospective study with 202 colorectal cancer patients found that SMAD4 deletion was associated w... | 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
- SMAD4
- Genome
- hg38
- Position
- chr18:51,030,213-51,085,039
- Variant Type
- cnv
- Variant (CIViC) (CIViC Variant)
- LOSS
- Transcript 1 (CIViC Variant)
- ENST00000342988.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/564
- Variant (CIViC) (CIViC Variant)
- DELETION
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/646
Genome browser