chr9:4985272:> Detail (hg19) (JAK2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:4,985,272-5,129,948 |
| hg38 | chr9:4,985,272-5,129,948 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| Pediatric B-cell Acute Lymphoblastic Leukemia | Ruxolitinib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 27860260 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| A 17-year-old Native American female with B-ALL had persistent MRD at the end of induction. In addit... | 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
- chr9:4,985,272-5,129,948
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- JAK2 fusions
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2572
- Variant (CIViC) (CIViC Variant)
- JAK2 F694L
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2587
Genome browser