chr16:2762423:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr16:2,762,423-2,770,225
hg38 chr16:2,712,422-2,720,224 

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
0.002 Congenital chromosomal disease NA BeFree Detail
<0.001 Hepatic Vein Thrombosis NA BeFree Detail
<0.001 Hypertension, Portal Portal hypertension has been reported to afflict 7% to 18% of patients with Phil... BeFree 25027569 Detail
<0.001 leukemia NA BeFree Detail
0.004 Leukemia, Myelocytic, Acute NA BeFree Detail
<0.001 Myeloid Leukemia, Chronic NA BeFree Detail
<0.001 Leukemia, Myelomonocytic, Chronic NA BeFree Detail
<0.001 chronic neutrophilic leukemia NA BeFree Detail
<0.001 paroxysmal nocturnal hemoglobinuria No IDH1 R132 and IDH2 R172 mutations were identified in the entire cohort, where... BeFree 25486927 Detail
<0.001 Myelodysplasia NA BeFree Detail
0.001 myelofibrosis NA BeFree Detail
<0.001 polycythemia Thrombosis within the splanchnic circulation was prevalent in patients with poly... BeFree 25027569 Detail
<0.001 Preleukemia These neoplasms include therapy-related acute myeloid leukemia, myelodysplastic ... BeFree 25209604 Detail
<0.001 Preleukemia We performed polymerase chain reaction-denaturing high performance liquid chroma... BeFree 25486927 Detail
<0.001 retinitis pigmentosa NA BeFree Detail
<0.001 Substance Withdrawal Syndrome NA BeFree Detail
<0.001 Supraventricular tachycardia NA BeFree Detail
0.003 Thrombocythemia, Essential The mechanism of increased angiogenesis in MPNs and the development of fibrosis ... BeFree 25196073 Detail
<0.001 Thromboembolism NA BeFree Detail
<0.001 Drug withdrawal syndrome NA BeFree Detail
<0.001 Mastocytosis, Systemic NA BeFree Detail
<0.001 Heparin-induced thrombocytopenia NA BeFree Detail
<0.001 secondary acute myeloid leukemia NA BeFree Detail
<0.001 chronic eosinophilic leukemia NA BeFree Detail
<0.001 juvenile myelomonocytic leukemia NA BeFree Detail
<0.001 thrombophilia NA BeFree Detail
<0.001 Overlap syndrome RARS-T is a provisional entity in the MDS/MPN (myeloproliferative neoplasm) over... BeFree 25899435 Detail
0.004 Primary myelofibrosis Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-... BeFree 24957246 Detail
<0.001 Supraventricular tachycardia The JAK2 V617F mutation is an independent risk factor for MPN and SVT. BeFree 21497883 Detail
0.004 polycythemia vera In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CA... BeFree 26071474 Detail
0.004 Primary myelofibrosis Thus, for Ph(-) MPN in which ET and prefibrotic PMF represent the most probable ... BeFree 19616600 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 thrombocytosis The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count ... BeFree 21350094 Detail
0.003 Thrombocythemia, Essential Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-... BeFree 24957246 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
0.004 Leukemia, Myelocytic, Acute Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AM... BeFree 22571758 Detail
<0.001 Deep Vein Thrombosis Individuals harboring JAK2 V617F mutation, regardless of MPN type, were at highe... BeFree 25559461 Detail
0.004 Leukemia, Myelocytic, Acute PVTL-1 cells may provide a valuable model system to elucidate the molecular mech... BeFree 24404189 Detail
0.003 Thrombocythemia, Essential Thus, for Ph(-) MPN in which ET and prefibrotic PMF represent the most probable ... BeFree 19616600 Detail
<0.001 Hypereosinophilia NA BeFree Detail
<0.001 thrombocytosis NA BeFree Detail
<0.001 Budd-Chiari syndrome NA BeFree Detail
<0.001 Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative This review summarizes some of the current knowledge of molecular pathogenetic l... BeFree 25212680 Detail
<0.001 Myelodysplastic-Myeloproliferative Diseases These neoplasms include therapy-related acute myeloid leukemia, myelodysplastic ... BeFree 25209604 Detail
<0.001 Myelodysplastic/myeloproliferative neoplasm, unclassifiable NA BeFree Detail
<0.001 Myeloproliferative neoplasm, unclassifiable NA BeFree Detail
<0.001 Treatment related acute myeloid leukaemia These neoplasms include therapy-related acute myeloid leukemia, myelodysplastic ... BeFree 25209604 Detail
<0.001 Non-Malignant Ascites Adverse Event Portal hypertension has been reported to afflict 7% to 18% of patients with Phil... BeFree 25027569 Detail
<0.001 myeloid neoplasm NA BeFree Detail
<0.001 myelodysplastic syndrome These neoplasms include therapy-related acute myeloid leukemia, myelodysplastic ... BeFree 25209604 Detail
<0.001 myelodysplastic syndrome We performed polymerase chain reaction-denaturing high performance liquid chroma... BeFree 25486927 Detail
0.004 Primary myelofibrosis The mechanism of increased angiogenesis in MPNs and the development of fibrosis ... BeFree 25196073 Detail
<0.001 aplastic anemia We performed polymerase chain reaction-denaturing high performance liquid chroma... BeFree 25486927 Detail
<0.001 Blast Phase NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
Portal hypertension has been reported to afflict 7% to 18% of patients with Philadelphia-negative MP... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
No IDH1 R132 and IDH2 R172 mutations were identified in the entire cohort, whereas IDH1 G105G allele... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Thrombosis within the splanchnic circulation was prevalent in patients with polycythemia compared wi... DisGeNET Detail
These neoplasms include therapy-related acute myeloid leukemia, myelodysplastic syndrome (t-MDS), an... DisGeNET Detail
We performed polymerase chain reaction-denaturing high performance liquid chromatography (PCR-DHPLC)... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The mechanism of increased angiogenesis in MPNs and the development of fibrosis in the bone marrow 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
RARS-T is a provisional entity in the MDS/MPN (myeloproliferative neoplasm) overlap syndromes, with ... DisGeNET Detail
Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is assoc... DisGeNET Detail
The JAK2 V617F mutation is an independent risk factor for MPN and SVT. DisGeNET Detail
In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analy... DisGeNET Detail
Thus, for Ph(-) MPN in which ET and prefibrotic PMF represent the most probable diagnoses, a JAK2(V6... DisGeNET Detail
In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analy... DisGeNET Detail
The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3... DisGeNET Detail
Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is assoc... DisGeNET Detail
In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analy... DisGeNET Detail
Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one c... DisGeNET Detail
Individuals harboring JAK2 V617F mutation, regardless of MPN type, were at higher risk of VTE (OR=5.... DisGeNET Detail
PVTL-1 cells may provide a valuable model system to elucidate the molecular mechanisms involved in e... DisGeNET Detail
Thus, for Ph(-) MPN in which ET and prefibrotic PMF represent the most probable diagnoses, a JAK2(V6... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
This review summarizes some of the current knowledge of molecular pathogenetic lesions in the MDS/MP... DisGeNET Detail
These neoplasms include therapy-related acute myeloid leukemia, myelodysplastic syndrome (t-MDS), an... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
These neoplasms include therapy-related acute myeloid leukemia, myelodysplastic syndrome (t-MDS), an... DisGeNET Detail
Portal hypertension has been reported to afflict 7% to 18% of patients with Philadelphia-negative MP... DisGeNET Detail
NA DisGeNET Detail
These neoplasms include therapy-related acute myeloid leukemia, myelodysplastic syndrome (t-MDS), an... DisGeNET Detail
We performed polymerase chain reaction-denaturing high performance liquid chromatography (PCR-DHPLC)... DisGeNET Detail
The mechanism of increased angiogenesis in MPNs and the development of fibrosis in the bone marrow i... DisGeNET Detail
We performed polymerase chain reaction-denaturing high performance liquid chromatography (PCR-DHPLC)... 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
chr16:2,762,423-2,770,225
Variant Type
snv
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