chr12:11504757:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr12:11,504,757-11,508,525
hg38 chr12:11,351,823-11,355,591 

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 Exanthema NA BeFree Detail
<0.001 HIV Infections NA BeFree Detail
<0.001 Acute Megakaryocytic Leukemias NA BeFree Detail
<0.001 lymphoma NA BeFree Detail
<0.001 myelofibrosis NA BeFree Detail
<0.001 Neoplasm Metastasis NA BeFree Detail
<0.001 retinoblastoma NA BeFree Detail
<0.001 Thrombocythemia, Essential Overall, 217 patients with ET (number 197) and early-PMF (number 20) were includ... BeFree 25801912 Detail
<0.001 Unipolar Depression NA BeFree Detail
<0.001 Malignant neoplasm of colon stage IV NA BeFree Detail
<0.001 Acute panmyelosis with myelofibrosis In total, 199 patients with MPN (54 primary myelofibrosis [PMF], 79 essential th... BeFree 25873496 Detail
<0.001 endometrial carcinoma NA BeFree Detail
<0.001 Carcinogenesis NA BeFree Detail
<0.001 polycythemia vera In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CA... BeFree 26071474 Detail
<0.001 Chronic myeloproliferative disorder In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CA... BeFree 26071474 Detail
<0.001 Myeloproliferative disease In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CA... BeFree 26071474 Detail
<0.001 colon carcinoma NA BeFree Detail
<0.001 Spots on skin NA BeFree Detail
<0.001 major depressive disorder NA BeFree Detail
<0.001 Hereditary Nonpolyposis Colorectal Cancer NA BeFree Detail
<0.001 NEUROTICISM NA BeFree Detail
<0.001 Primary myelofibrosis In total, 199 patients with MPN (54 primary myelofibrosis [PMF], 79 essential th... BeFree 25873496 Detail
<0.001 Malignant tumor of colon NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Overall, 217 patients with ET (number 197) and early-PMF (number 20) were included in the analysis.M... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In total, 199 patients with MPN (54 primary myelofibrosis [PMF], 79 essential thrombocythemia [ET], ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analy... DisGeNET Detail
In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analy... DisGeNET Detail
In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analy... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In total, 199 patients with MPN (54 primary myelofibrosis [PMF], 79 essential thrombocythemia [ET], ... 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
hg19
Position
chr12:11,504,757-11,508,525
Variant Type
snv
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