chr19:1205741:> Detail (hg38) (STK11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:1,205,740-1,223,074 |
| hg38 | chr19:1,205,741-1,223,075 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| Peutz-Jeghers syndrome | B |
Predisposing
|
Supports
|
Pathogenic | Rare Germline | 4 | 26979979 | Detail | |
| lung adenocarcinoma | Atezolizumab,Nivolumab,Pembrolizumab | B |
Predictive
|
Supports
|
Resistance | Somatic | 4 | 29773717 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Retrospective analysis of the Danish tumor bank. 43 patients with Peutz-Jeghers Syndrome were identi... | CIViC Evidence | Detail |
| In a retrospective analysis in two separate datasets (Stand Up To Cancer 2 Cohort and Checkmate-057)... | 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
- chr19:1,205,741-1,223,075
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- MUTATION
- Transcript 1 (CIViC Variant)
- ENST00000326873.7
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/715
Genome browser