chr4:53377569:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:54,243,736-54,330,548 |
| hg38 | chr4:53,377,569-53,464,381 |
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 |
|---|---|---|---|---|---|
| 0.007 | Eosinophilia | NA | BeFree,LHGDN | Detail | |
| <0.001 | Erythroblastosis, Fetal | NA | BeFree | Detail | |
| 0.003 | Hypereosinophilia | We therefore investigated 426 samples from patients with hypereosinophilia of un... | BeFree | 26017288 | Detail |
| <0.001 | Fibroid Tumor | NA | BeFree | Detail | |
| 0.004 | leukemia | NA | BeFree,LHGDN | Detail | |
| 0.004 | Leukemia, Myelocytic, Acute | NA | BeFree,LHGDN | Detail | |
| 0.001 | Myeloid Leukemia, Chronic | NA | BeFree | Detail | |
| <0.001 | Leukemia, Myelomonocytic, Chronic | NA | BeFree | Detail | |
| 0.120 | acute promyelocytic leukemia | NA | ORPHANET | Detail | |
| <0.001 | mastocytosis | NA | BeFree | Detail | |
| 0.001 | Myeloproliferative disease | NA | BeFree | Detail | |
| <0.001 | polyps | NA | BeFree | Detail | |
| <0.001 | urticaria pigmentosa | NA | BeFree | Detail | |
| <0.001 | T-Cell Lymphoma | NA | BeFree | Detail | |
| <0.001 | Granulocytic Sarcoma | NA | BeFree | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| 0.011 | Idiopathic hypereosinophilic syndrome | The FIP1-like-1-platelet-derived growth factor receptor alpha (FIP1L1-PDGFRα) fu... | BeFree | 25431951 | Detail |
| 0.011 | Idiopathic hypereosinophilic syndrome | FIP1L1-PDGFRA is a constitutively activated kinase described in chronic eosinoph... | BeFree | 25761934 | Detail |
| 0.001 | Eosinophilic leukemia | NA | BeFree | Detail | |
| <0.001 | Lymphomatoid Papulosis | NA | BeFree | Detail | |
| 0.006 | Mastocytosis, Systemic | NA | BeFree,LHGDN | Detail | |
| <0.001 | Gastrointestinal Stromal Tumors | NA | BeFree | Detail | |
| 0.009 | disseminated eosinophilic collagen disease | The FIP1-like-1-platelet-derived growth factor receptor alpha (FIP1L1-PDGFRα) fu... | BeFree | 25431951 | Detail |
| 0.009 | disseminated eosinophilic collagen disease | FIP1L1-PDGFRA is a constitutively activated kinase described in chronic eosinoph... | BeFree | 25761934 | Detail |
| 0.134 | chronic eosinophilic leukemia | The FIP1-like-1-platelet-derived growth factor receptor alpha (FIP1L1-PDGFRα) fu... | BeFree,ORPHANET | 25431951 | Detail |
| 0.134 | chronic eosinophilic leukemia | FIP1L1-PDGFRA is a constitutively activated kinase described in chronic eosinoph... | BeFree,ORPHANET | 25761934 | Detail |
| 0.005 | Eosinophilic disorder | NA | BeFree | Detail | |
| 0.138 | hypereosinophilic syndrome | The FIP1-like-1-platelet-derived growth factor receptor alpha (FIP1L1-PDGFRα) fu... | BeFree,CTD_human,LHGDN | 25431951 | Detail |
| 0.138 | hypereosinophilic syndrome | FIP1L1-PDGFRA is a constitutively activated kinase described in chronic eosinoph... | BeFree,CTD_human,LHGDN | 25761934 | Detail |
| 0.004 | Disorder characterized by eosinophilia | NA | BeFree | Detail | |
| <0.001 | campomelic dysplasia | NA | BeFree | Detail | |
| <0.001 | Blast Phase | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We therefore investigated 426 samples from patients with hypereosinophilia of unknown significance i... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The FIP1-like-1-platelet-derived growth factor receptor alpha (FIP1L1-PDGFRα) fusion oncogene is the... | DisGeNET | Detail |
| FIP1L1-PDGFRA is a constitutively activated kinase described in chronic eosinophilic leukemia (CEL) ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The FIP1-like-1-platelet-derived growth factor receptor alpha (FIP1L1-PDGFRα) fusion oncogene is the... | DisGeNET | Detail |
| FIP1L1-PDGFRA is a constitutively activated kinase described in chronic eosinophilic leukemia (CEL) ... | DisGeNET | Detail |
| The FIP1-like-1-platelet-derived growth factor receptor alpha (FIP1L1-PDGFRα) fusion oncogene is the... | DisGeNET | Detail |
| FIP1L1-PDGFRA is a constitutively activated kinase described in chronic eosinophilic leukemia (CEL) ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The FIP1-like-1-platelet-derived growth factor receptor alpha (FIP1L1-PDGFRα) fusion oncogene is the... | DisGeNET | Detail |
| FIP1L1-PDGFRA is a constitutively activated kinase described in chronic eosinophilic leukemia (CEL) ... | 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
- chr4:53,377,569-53,464,381
- Variant Type
- snv
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