chr18:48556583:> Detail (hg19) (SMAD4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:48,556,583-48,611,409 |
| hg38 | chr18:51,030,213-51,085,039 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| pancreatic adenocarcinoma | B |
Prognostic
|
Supports
|
Poor Outcome | Somatic | 3 | 19584151 | Detail | |
| colorectal cancer | Cetuximab,Panitumumab | B |
Predictive
|
Supports
|
Resistance | Somatic | 2 | 26508446 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In a study of 89 patients with adenocarcinoma of the pancreas who underwent a pancreaticoduodenectom... | CIViC Evidence | Detail |
| In a retrospective analysis of 65 patients with metastatic colorectal cancer, SMAD4 mutations were m... | 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
- hg19
- Position
- chr18:48,556,583-48,611,409
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- MUTATION
- Transcript 1 (CIViC Variant)
- ENST00000342988.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/216
Genome browser