chr19:11487883:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr19:11,487,883-11,494,990
hg38 chr19:11,377,207-11,384,314 

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
0.004 renal cell carcinoma NA BeFree,LHGDN Detail
0.003 squamous cell carcinoma NA BeFree,LHGDN Detail
<0.001 Cardiovascular Diseases NA BeFree Detail
0.003 Cyst NA LHGDN Detail
0.003 Endometrial Neoplasms NA LHGDN Detail
0.003 endometriosis NA LHGDN Detail
<0.001 Ependymoma NA BeFree Detail
0.080 Fetal Distress NA RGD Detail
0.081 Glioma Silencing erythropoietin receptor on glioma cells reinforces efficacy of temozol... BeFree,RGD 25544764 Detail
0.003 Head and Neck Neoplasms NA LHGDN Detail
0.080 hepatic encephalopathy NA RGD Detail
<0.001 Von Hippel-Lindau syndrome NA BeFree Detail
0.003 Hyperplasia NA LHGDN Detail
<0.001 Hypertensive disease NA BeFree Detail
<0.001 ischemia NA BeFree Detail
<0.001 Kidney Failure, Chronic NA BeFree Detail
0.007 leukemia NA BeFree,LHGDN Detail
<0.001 Acute lymphocytic leukemia NA BeFree Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 NA BeFree Detail
<0.001 Adult T-Cell Lymphoma/Leukemia NA BeFree Detail
0.002 Lymphoproliferative Disorders NA GAD Detail
<0.001 medulloblastoma NA BeFree Detail
0.121 melanoma NA BeFree,CTD_human Detail
0.003 Mesothelioma NA LHGDN Detail
<0.001 Monoclonal Gammopathy of Undetermined Significance NA BeFree Detail
<0.001 multiple myeloma NA BeFree Detail
0.005 Myeloproliferative disease NA BeFree,GAD,LHGDN Detail
0.080 myocardial infarction NA RGD Detail
0.120 Neoplasm Invasiveness NA CTD_human Detail
0.123 Neoplasm Metastasis NA CTD_human,LHGDN Detail
0.120 Nerve Degeneration NA CTD_human Detail
<0.001 neuroblastoma NA BeFree Detail
<0.001 ovarian carcinoma NA BeFree Detail
0.003 Parathyroid Neoplasms NA LHGDN Detail
0.003 pheochromocytoma NA BeFree,LHGDN Detail
0.131 polycythemia NA BeFree,CTD_human,LHGDN Detail
0.005 polycythemia vera NA BeFree,GAD Detail
<0.001 Precancerous Conditions NA BeFree Detail
0.003 Prostatic Neoplasms NA LHGDN Detail
0.003 Thrombocythemia, Essential NA BeFree,GAD Detail
0.123 Thyroid Neoplasm NA CTD_human,LHGDN Detail
<0.001 Adenocarcinoma of lung (disorder) NA BeFree Detail
0.445 Familial erythrocytosis Some patients with primary hereditary erythrocytosis exhibit a mutation in the e... BeFree,CTD_human,GAD,MGD,ORPHANET,UNIPROT 25189721 Detail
0.001 Tumor Progression NA BeFree Detail
<0.001 hepatoblastoma NA BeFree Detail
0.080 cholangiocarcinoma NA BeFree,RGD Detail
<0.001 Female Pseudohermaphroditism NA BeFree Detail
<0.001 Anemia, severe NA BeFree Detail
<0.001 Chronic myocardial ischemia NA BeFree Detail
<0.001 Simple renal cyst NA BeFree Detail
<0.001 malignant mesothelioma NA BeFree Detail
<0.001 Malignant neoplasm of prostate NA BeFree Detail
<0.001 Carcinogenesis NA BeFree Detail
<0.001 Leukemogenesis NA BeFree Detail
0.001 prostate carcinoma NA BeFree Detail
<0.001 Epithelial ovarian cancer NA BeFree Detail
0.005 polycythemia vera HLA-G turns off erythropoietin receptor signaling through JAK2 and JAK2 V617F de... BeFree 18059484 Detail
0.001 breast carcinoma NA BeFree Detail
0.005 polycythemia vera The JAK2 V617F mutation is responsible for the constitutive activation of the er... BeFree 21953826 Detail
<0.001 Central neuroblastoma NA BeFree Detail
<0.001 Malignant neoplasm of kidney NA BeFree Detail
<0.001 Cardiac defects NA BeFree Detail
0.003 ovarian neoplasm NA LHGDN Detail
<0.001 High-Grade Prostatic Intraepithelial Neoplasia NA BeFree Detail
<0.001 Precursor B-cell lymphoblastic leukemia NA BeFree Detail
<0.001 renal carcinoma NA BeFree Detail
0.126 Mammary Neoplasms NA BeFree,CTD_human,LHGDN Detail
0.080 Brain Hypoxia NA RGD Detail
0.002 Erythrocytosis NA BeFree Detail
<0.001 tumor vasculature NA BeFree Detail
<0.001 Parvovirus B19 (disease) NA BeFree Detail
<0.001 Precursor Cell Lymphoblastic Leukemia Lymphoma NA BeFree Detail
<0.001 Prostatic Hyperplasia NA BeFree Detail
0.005 myelodysplastic syndrome NA GAD,LHGDN Detail
<0.001 Anemia in malignant neoplastic disease NA BeFree Detail
<0.001 adenocarcinoma NA BeFree Detail
<0.001 Primary myelofibrosis NA BeFree Detail
0.003 Alzheimer's disease NA LHGDN Detail
<0.001 anemia NA BeFree Detail
0.003 Anoxia NA LHGDN Detail
<0.001 Brain Neoplasms NA BeFree Detail
0.001 Malignant neoplasm of breast NA BeFree Detail
0.001 Non-small cell lung carcinoma NA BeFree Detail
Annotation

Annotations

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Silencing erythropoietin receptor on glioma cells reinforces efficacy of temozolomide and X-rays thr... DisGeNET Detail
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Some patients with primary hereditary erythrocytosis exhibit a mutation in the erythropoietin recept... DisGeNET Detail
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HLA-G turns off erythropoietin receptor signaling through JAK2 and JAK2 V617F dephosphorylation: cli... DisGeNET Detail
NA DisGeNET Detail
The JAK2 V617F mutation is responsible for the constitutive activation of the erythropoietin recepto... DisGeNET Detail
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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
hg19
Position
chr19:11,487,883-11,494,990
Variant Type
snv
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