chr17:72030561:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:70,026,702-70,037,451 |
| hg38 | chr17:72,030,561-72,041,310 |
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
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | leukemia | NA | BeFree | Detail | |
| <0.001 | Leukemia, Myelocytic, Acute | NA | BeFree | Detail | |
| <0.001 | Leukemia, Myelomonocytic, Chronic | NA | BeFree | Detail | |
| 0.001 | myelofibrosis | NA | BeFree | Detail | |
| 0.001 | polycythemia vera | NA | BeFree | Detail | |
| <0.001 | Thrombocythemia, Essential | NA | BeFree | Detail | |
| 0.002 | Primary myelofibrosis | JAK2 V617F mutation was found in 51 of 75 cases (68%) of CMPD, 82 per cent in PV... | BeFree | 20966521 | Detail |
| <0.001 | Non-Neoplastic Disorder | Fli-1 protein expression by myeloid progenitors was considerably heterogenous in... | BeFree | 16930139 | Detail |
| <0.001 | Thrombocythemia, Essential | Fli-1 mRNA expression was significantly higher in Essential thrombocythaemia (ET... | BeFree | 16930139 | Detail |
| 0.001 | polycythemia vera | JAK2 V617F mutation was found in 51 of 75 cases (68%) of CMPD, 82 per cent in PV... | BeFree | 20966521 | Detail |
| <0.001 | Extramedullary Hematopoiesis (disorder) | Thus, JAK2(V617F) is frequently present in splenic EMH cells associated with CMP... | BeFree | 17643100 | Detail |
| <0.001 | Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative | NA | BeFree | Detail | |
| <0.001 | Chronic myeloproliferative disorder | NA | BeFree | Detail | |
| <0.001 | Non-Neoplastic Disorder | NA | BeFree | Detail | |
| <0.001 | Extramedullary Hematopoiesis (disorder) | NA | BeFree | Detail | |
| 0.002 | Primary myelofibrosis | NA | BeFree | Detail | |
| <0.001 | Blast Phase | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| JAK2 V617F mutation was found in 51 of 75 cases (68%) of CMPD, 82 per cent in PV, 70 per cent in ET ... | DisGeNET | Detail |
| Fli-1 protein expression by myeloid progenitors was considerably heterogenous in Ph(-) CMPD independ... | DisGeNET | Detail |
| Fli-1 mRNA expression was significantly higher in Essential thrombocythaemia (ET) with JAK2 (V617F) ... | DisGeNET | Detail |
| JAK2 V617F mutation was found in 51 of 75 cases (68%) of CMPD, 82 per cent in PV, 70 per cent in ET ... | DisGeNET | Detail |
| Thus, JAK2(V617F) is frequently present in splenic EMH cells associated with CMPD, but it is rarely ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | 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
- -
- dbSNP
- rs386626619 dbSNP
- Genome
- hg38
- Position
- chr17:72,030,561-72,041,310
- Variant Type
- snv
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