chr19:17824782:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:17,935,591-17,958,826 |
| hg38 | chr19:17,824,782-17,848,017 |
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 | Cardiovascular Diseases | Lack of association between JAK3 gene polymorphisms and cardiovascular disease i... | BeFree | 25815310 | Detail |
| <0.001 | Malignant tumor of cervix | NA | BeFree | Detail | |
| <0.001 | colitis | NA | BeFree | Detail | |
| 0.009 | Down syndrome | NA | BeFree,LHGDN | Detail | |
| <0.001 | IgA glomerulonephritis | NA | BeFree | Detail | |
| <0.001 | membranous glomerulonephritis | NA | BeFree | Detail | |
| <0.001 | Focal glomerulosclerosis | NA | BeFree | Detail | |
| <0.001 | Graft-vs-Host Disease | NA | BeFree | Detail | |
| <0.001 | Hematological Disease | NA | BeFree | Detail | |
| 0.003 | Immunologic Deficiency Syndromes | NA | BeFree,GAD | Detail | |
| <0.001 | Inflammatory Bowel Diseases | NA | BeFree | Detail | |
| 0.001 | leukemia | Functional RNAi screen targeting cytokine and growth factor receptors reveals on... | BeFree | 25109334 | Detail |
| <0.001 | chronic lymphocytic leukemia | NA | BeFree | Detail | |
| 0.002 | Acute lymphocytic leukemia | Here, we report the first patient with relapsed pediatric ETP-ALL to exhibit a h... | BeFree | 25430085 | Detail |
| <0.001 | Leukemia, Lymphocytic, Acute, L1 | NA | BeFree | Detail | |
| 0.004 | Acute Megakaryocytic Leukemias | NA | BeFree,LHGDN | Detail | |
| <0.001 | myeloid leukemia | NA | BeFree | Detail | |
| 0.005 | Myeloid Leukemia, Chronic | NA | GAD | Detail | |
| <0.001 | Leukemia, T-Cell | NA | BeFree | Detail | |
| 0.003 | Adult T-Cell Lymphoma/Leukemia | NA | BeFree,GAD | Detail | |
| <0.001 | Leukemia, T-Cell, Chronic | These results for the first time provide a portrait of the mutational landscape ... | BeFree | 24825865 | Detail |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| 0.003 | lymphopenia | NA | BeFree,GAD | Detail | |
| 0.003 | Lymphoproliferative Disorders | NA | BeFree,GAD | Detail | |
| 0.003 | melanoma | NA | LHGDN | Detail | |
| <0.001 | meningioma | NA | BeFree | Detail | |
| <0.001 | Mucocele | NA | BeFree | Detail | |
| 0.002 | multiple myeloma | NA | GAD | Detail | |
| 0.006 | Myeloproliferative disease | NA | BeFree,LHGDN | Detail | |
| <0.001 | Nasal Polyps | NA | BeFree | Detail | |
| <0.001 | Neoplasm Metastasis | In addition, H69 cells with v.NICD were xenotransplanted into immune-compromised... | BeFree | 25456735 | Detail |
| 0.002 | Pathologic Neovascularization | NA | GAD | Detail | |
| <0.001 | Temporomandibular Joint Dysfunction Syndrome | NA | BeFree | Detail | |
| 0.002 | diffuse large B-cell lymphoma | NA | GAD | Detail | |
| <0.001 | T-Cell Lymphoma | NA | BeFree | Detail | |
| 0.004 | Lymphoma, T-Cell, Cutaneous | Treatment with a JAK3 inhibitor significantly reduced CTCL cell survival. | BeFree,LHGDN | 26082451 | Detail |
| <0.001 | acute leukemia | NA | BeFree | Detail | |
| <0.001 | Cutaneous Melanoma | NA | BeFree | Detail | |
| 0.006 | Ki-1+ Anaplastic Large Cell Lymphoma | NA | BeFree,LHGDN | Detail | |
| 0.002 | Malignant neoplasm of lung | NA | GAD | Detail | |
| 0.001 | Autosomal recessive SCID | NA | BeFree | Detail | |
| <0.001 | adenosine deaminase deficiency | NA | BeFree | Detail | |
| <0.001 | reticular dysgenesis | NA | BeFree | Detail | |
| <0.001 | cervix carcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | NA | BeFree | Detail | |
| <0.001 | Malignant Mesothelioma of Peritoneum | Targeted, massively parallel DNA sequencing and molecular inversion probe microa... | BeFree | 25588929 | Detail |
| <0.001 | Disseminated Malignant Neoplasm | In addition, H69 cells with v.NICD were xenotransplanted into immune-compromised... | BeFree | 25456735 | Detail |
| 0.120 | juvenile myelomonocytic leukemia | NA | BeFree,CTD_human | Detail | |
| <0.001 | Hematologic Neoplasms | NA | BeFree | Detail | |
| <0.001 | Severe combined immunodeficiency due to adenosine deaminase deficiency | NA | BeFree | Detail | |
| <0.001 | Primary immune deficiency disorder | NA | BeFree | Detail | |
| <0.001 | Idiopathic crescentic glomerulonephritis | NA | BeFree | Detail | |
| <0.001 | combined immunodeficiency | We here present the first case of revertant mosaicism in JAK3 deficiency, manife... | BeFree | 25205547 | Detail |
| <0.001 | Humoral immune defect | NA | BeFree | Detail | |
| <0.001 | Carcinogenesis | Overall, we demonstrate a novel role for IL2Rγ in potentiating oncogenesis in th... | BeFree | 25109334 | Detail |
| <0.001 | Leukemogenesis | NA | BeFree | Detail | |
| <0.001 | Lymphoid neoplasm | NA | BeFree | Detail | |
| <0.001 | Hematologic Neoplasms | The discovery of the highly prevalent activating JAK (Janus kinase) 2 V617F muta... | BeFree | 23863177 | Detail |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | colon carcinoma | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| 0.002 | X-Linked Combined Immunodeficiency Diseases | NA | BeFree | Detail | |
| <0.001 | Precursor B-cell lymphoblastic leukemia | NA | BeFree | Detail | |
| <0.001 | congenital amegakaryocytic thrombocytopenia | NA | BeFree | Detail | |
| <0.001 | Anaplastic Large Cell Lymphoma, ALK-Positive | NA | BeFree | Detail | |
| <0.001 | MYELOPROLIFERATIVE SYNDROME, TRANSIENT | NA | BeFree | Detail | |
| 0.080 | Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive | NA | MGD | Detail | |
| <0.001 | TIBIAL MUSCULAR DYSTROPHY, TARDIVE | NA | BeFree | Detail | |
| <0.001 | IMMUNE SUPPRESSION | NA | BeFree | Detail | |
| 0.120 | AMYOTROPHIC LATERAL SCLEROSIS 1 | NA | CTD_human | Detail | |
| 0.003 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | NA | BeFree,GAD | Detail | |
| 0.001 | Precursor Cell Lymphoblastic Leukemia Lymphoma | Here, we report the first patient with relapsed pediatric ETP-ALL to exhibit a h... | BeFree | 25430085 | Detail |
| <0.001 | T-cell prolymphocytic leukemia | These results for the first time provide a portrait of the mutational landscape ... | BeFree | 24825865 | Detail |
| 0.002 | myelodysplastic syndrome | NA | GAD | Detail | |
| <0.001 | Primary myelofibrosis | NA | BeFree | Detail | |
| <0.001 | rheumatoid arthritis | Lack of association between JAK3 gene polymorphisms and cardiovascular disease i... | BeFree | 25815310 | Detail |
| <0.001 | asthma | NA | BeFree | Detail | |
| <0.001 | Autoimmune Diseases | These results suggest irreversible inhibitors of this class may be useful select... | BeFree | 25552479 | Detail |
| <0.001 | Bacterial Infections | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of urinary bladder | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| <0.001 | Malignant tumor of colon | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Lack of association between JAK3 gene polymorphisms and cardiovascular disease in Spanish patients w... | 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 |
| Functional RNAi screen targeting cytokine and growth factor receptors reveals oncorequisite role for... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Here, we report the first patient with relapsed pediatric ETP-ALL to exhibit a homozygous JAK3 activ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| These results for the first time provide a portrait of the mutational landscape of T-PLL and implica... | 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 |
| In addition, H69 cells with v.NICD were xenotransplanted into immune-compromised Rag2(-/-) Jak3(-/-)... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Treatment with a JAK3 inhibitor significantly reduced CTCL cell survival. | 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 |
| Targeted, massively parallel DNA sequencing and molecular inversion probe microarray analysis reveal... | DisGeNET | Detail |
| In addition, H69 cells with v.NICD were xenotransplanted into immune-compromised Rag2(-/-) Jak3(-/-)... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We here present the first case of revertant mosaicism in JAK3 deficiency, manifesting as combined im... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Overall, we demonstrate a novel role for IL2Rγ in potentiating oncogenesis in the setting of JAK3-mu... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The discovery of the highly prevalent activating JAK (Janus kinase) 2 V617F mutation in myeloprolife... | 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 |
| Here, we report the first patient with relapsed pediatric ETP-ALL to exhibit a homozygous JAK3 activ... | DisGeNET | Detail |
| These results for the first time provide a portrait of the mutational landscape of T-PLL and implica... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Lack of association between JAK3 gene polymorphisms and cardiovascular disease in Spanish patients w... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| These results suggest irreversible inhibitors of this class may be useful selective agents, both as ... | 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
- chr19:17,824,782-17,848,017
- Variant Type
- snv
Genome browser