chr20:30946133:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr20:30,946,133-31,027,122
hg38 chr20:32,358,330-32,439,319 

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 Malignant tumor of cervix NA BeFree Detail
<0.001 Developmental Disabilities NA BeFree Detail
0.008 Congenital chromosomal disease A 14-yr-old male was admitted to our hospital with MDS and the chromosomal abnor... BeFree 25130056 Detail
0.008 Congenital chromosomal disease AML with gain of chromosome 8 as the sole chromosomal abnormality (+8sole) is as... BeFree 25592059 Detail
0.008 Congenital chromosomal disease Karyotype analysis was performed in 179 patients with AML or MDS with the differ... BeFree 26214902 Detail
<0.001 Presenile dementia NA BeFree Detail
<0.001 Dwarfism NA BeFree Detail
<0.001 dystonia NA BeFree Detail
<0.001 Eosinophilia 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
<0.001 HIV Infections NA BeFree Detail
<0.001 Immune System Diseases NA BeFree Detail
0.005 leukemia RUNX1 translocations and amplifications have been implicated in acute myeloblast... BeFree 24912843 Detail
0.005 leukemia Higher Robo4 expression was closely associated with lower white blood cell count... BeFree 25794001 Detail
<0.001 chronic lymphocytic leukemia NA BeFree Detail
<0.001 Acute lymphocytic leukemia NA BeFree Detail
0.051 Leukemia, Myelocytic, Acute ASXL1 mutations are infrequent in young patients with primary acute myeloid leuk... BeFree,GAD 23952244 Detail
0.051 Leukemia, Myelocytic, Acute A recent report in Nature now demonstrates that a specific mutation in mouse col... BeFree,GAD 24589711 Detail
0.051 Leukemia, Myelocytic, Acute In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles de... BeFree,GAD 24845343 Detail
0.051 Leukemia, Myelocytic, Acute Although the frequency of evolution from hypocellular MDS to AML is low, our res... BeFree,GAD 25180186 Detail
0.051 Leukemia, Myelocytic, Acute SETBP1-MT collaborated with ASXL1-MT in inducing acute myeloid leukemia in vivo. BeFree,GAD 25306901 Detail
0.051 Leukemia, Myelocytic, Acute This review focuses on the phenotype of newly identified genes, including NPM1, ... BeFree,GAD 25311741 Detail
0.051 Leukemia, Myelocytic, Acute TP53 was the most common mutated gene in t-MDS (35.7%) as well as t-AML (33.3%),... BeFree,GAD 25573287 Detail
0.051 Leukemia, Myelocytic, Acute AML with gain of chromosome 8 as the sole chromosomal abnormality (+8sole) is as... BeFree,GAD 25592059 Detail
0.051 Leukemia, Myelocytic, Acute ASXL1 mutations in younger adult patients with acute myeloid leukemia: a study b... BeFree,GAD 25596267 Detail
0.051 Leukemia, Myelocytic, Acute What came first: MDS or AML? BeFree,GAD 25721039 Detail
0.051 Leukemia, Myelocytic, Acute This TP53 mutation pattern was strikingly similar to that observed in de novo MD... BeFree,GAD 25952993 Detail
0.051 Leukemia, Myelocytic, Acute In addition, mutations in epigenetic regulators such as DNMT3A, TET2, and ASXL1 ... BeFree,GAD 26118500 Detail
0.051 Leukemia, Myelocytic, Acute Karyotype analysis was performed in 179 patients with AML or MDS with the differ... BeFree,GAD 26214902 Detail
0.004 myeloid leukemia NA BeFree,GAD Detail
0.002 Myeloid Leukemia, Chronic NA BeFree Detail
0.019 Leukemia, Myelomonocytic, Chronic The study group included 13 MPN and four MDS/MPN patients (seven polycythemia ve... BeFree,GAD 24845343 Detail
0.019 Leukemia, Myelomonocytic, Chronic Survival in young adults with CMML, although higher than in older patients, is p... BeFree,GAD 25555161 Detail
0.019 Leukemia, Myelomonocytic, Chronic Here, we review recent biologic observations that support the current CMML WHO c... BeFree,GAD 25575034 Detail
0.019 Leukemia, Myelomonocytic, Chronic The study also suggests pathogenetic roles for SETBP1 and ASXL1 mutations in dis... BeFree,GAD 25850813 Detail
<0.001 chronic neutrophilic leukemia Furthermore, the majority of the patients with CSF3R-mutated CNL also expressed ... BeFree 25575036 Detail
<0.001 chronic neutrophilic leukemia ASXL1 mutations are frequent and prognostically detrimental in CSF3R-mutated chr... BeFree 25850813 Detail
0.001 acute promyelocytic leukemia NA BeFree Detail
0.001 leukopenia NA BeFree Detail
<0.001 lymphedema Heterozygous germline mutations in the zinc finger transcription factor GATA2 ha... BeFree 26214525 Detail
0.001 lymphoma NA BeFree Detail
<0.001 mastocytosis NA BeFree Detail
<0.001 melanoma NA BeFree Detail
0.004 Monosomy NA BeFree Detail
<0.001 Movement Disorders The Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDR... BeFree 25487881 Detail
0.001 multiple myeloma NA BeFree Detail
0.002 Myelodysplasia NA BeFree Detail
0.001 myelofibrosis NA BeFree Detail
0.004 Myeloproliferative disease In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles de... BeFree,GAD 24845343 Detail
0.001 neutropenia NA BeFree Detail
<0.001 polycythemia NA BeFree Detail
0.002 polycythemia vera The study group included 13 MPN and four MDS/MPN patients (seven polycythemia ve... BeFree 24845343 Detail
0.017 Preleukemia The presence of somatic mutations in splicing factor 3b subunit 1 (SF3B1) in pat... BeFree,GAD 25481243 Detail
0.017 Preleukemia Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently... BeFree,GAD 25619630 Detail
0.017 Preleukemia Heterozygous germline mutations in the zinc finger transcription factor GATA2 ha... BeFree,GAD 26214525 Detail
0.002 Thrombocythemia, Essential The study group included 13 MPN and four MDS/MPN patients (seven polycythemia ve... BeFree 24845343 Detail
<0.001 thymoma Genes in histone modification [BAP1 (n = 6; 13%), SETD2 (n = 5; 11%), ASXL1 (n =... BeFree 25482724 Detail
<0.001 Trisomy NA BeFree Detail
<0.001 urticaria pigmentosa NA BeFree Detail
<0.001 Liver failure NA BeFree Detail
0.003 acute leukemia NA BeFree Detail
<0.001 Monocytosis NA BeFree Detail
<0.001 Adult Acute Myeloblastic Leukemia NA BeFree Detail
<0.001 pediatric acute myeloblastic leukemia NA BeFree Detail
<0.001 Mastocytosis, Systemic NA BeFree Detail
<0.001 secondary myelofibrosis Among them, five patients (two PV, two MPN-U, and one MDS/MPN-U) progressed to M... BeFree 24845343 Detail
<0.001 Malignant neoplasm of lung NA BeFree Detail
0.002 Miller Dieker syndrome SETBP1 mutations drive leukemic transformation in ASXL1-mutated MDS. BeFree 25306901 Detail
<0.001 Renal glomerular disease NA BeFree Detail
<0.001 Acquired aplastic anemia NA BeFree Detail
<0.001 Philadelphia chromosome positive chronic myelogenous leukemia Few patients in remission of Ph-positive chronic myelogenous leukemia (CML) deve... BeFree 25631405 Detail
<0.001 Refractory anemia with excess blasts in transformation (clinical) NA BeFree Detail
<0.001 Solid tumour NA BeFree Detail
0.002 secondary acute myeloid leukemia ASXL1 mutations were associated with older age (P<0.0001), male sex (P=0.041), s... BeFree 25596267 Detail
<0.001 de novo myelodysplastic syndromes NA BeFree Detail
<0.001 cervix carcinoma NA BeFree Detail
<0.001 anaplastic astrocytoma NA BeFree Detail
0.122 juvenile myelomonocytic leukemia NA BeFree,CTD_human Detail
<0.001 prediabetes syndrome NA BeFree Detail
<0.001 Malignant neoplasm of prostate NA BeFree Detail
0.001 Hematologic Neoplasms NA BeFree Detail
<0.001 Dystonia Disorders NA BeFree Detail
0.002 Chromosome 8, trisomy The aim of our study was 1) to define if the amplification of c-MYC, MLL and RUN... BeFree 26214902 Detail
<0.001 dementia NA BeFree Detail
<0.001 Severe depression NA BeFree Detail
0.002 Leukemogenesis NA BeFree Detail
<0.001 prostate carcinoma NA BeFree Detail
0.002 Myeloid Leukemia, Chronic Previous studies have reported FLT3 mutation in as many as 9.2% of myeloprolifer... BeFree 23846442 Detail
0.002 polycythemia vera We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
0.051 Leukemia, Myelocytic, Acute Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AM... BeFree 22571758 Detail
0.002 breast carcinoma The efficacy of the software is verified through MDS and clustering and tested w... BeFree 25905921 Detail
<0.001 thrombocytosis The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count ... BeFree 21350094 Detail
<0.001 Carcinoma of lung NA BeFree Detail
0.001 5q-syndrome NA BeFree Detail
<0.001 anemia hemoglobin NA BeFree Detail
<0.001 Hypereosinophilia NA BeFree Detail
<0.001 thrombocytosis NA BeFree Detail
<0.001 Leukemia secondary NA BeFree Detail
0.001 Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative The study group included 13 MPN and four MDS/MPN patients (seven polycythemia ve... BeFree 24845343 Detail
0.001 Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative According to the 2008 WHO classification, the category of myelodysplastic/myelop... BeFree 25212680 Detail
0.002 Chronic myeloproliferative disorder In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles de... BeFree 24845343 Detail
0.001 Myelodysplastic Syndrome with Isolated del(5q) NA BeFree Detail
0.001 Therapy-related myelodysplastic syndrome TP53 was the most common mutated gene in t-MDS (35.7%) as well as t-AML (33.3%),... BeFree 25573287 Detail
0.004 Myelodysplastic-Myeloproliferative Diseases Myeloproliferative neoplasms (MPN) and myelodysplastic/myeloproliferative neopla... BeFree 24845343 Detail
0.004 Myelodysplastic-Myeloproliferative Diseases According to the 2008 WHO classification, the category of myelodysplastic/myelop... BeFree 25212680 Detail
<0.001 Congenital malformation syndrome NA BeFree Detail
<0.001 Eosinophilic disorder NA BeFree Detail
<0.001 Refractory anemia with excess blasts II NA BeFree Detail
<0.001 Acute Myeloid Leukemia Arising from Previous Myelodysplastic Syndrome NA BeFree Detail
0.001 Treatment related acute myeloid leukaemia NA BeFree Detail
<0.001 colorectal cancer NA BeFree Detail
<0.001 Disorder characterized by eosinophilia NA BeFree Detail
<0.001 Milroy Disease Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently... BeFree 25619630 Detail
0.001 Chromosome 5, trisomy 5q NA BeFree Detail
<0.001 campomelic dysplasia NA BeFree Detail
<0.001 Precursor Cell Lymphoblastic Leukemia Lymphoma NA BeFree Detail
<0.001 Refractory anemia with ring sideroblasts associated with marked thrombocytosis NA BeFree Detail
<0.001 myeloid neoplasm Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently... BeFree 25619630 Detail
0.001 Refractory anemia, without ringed sideroblasts, without excess blasts NA BeFree Detail
<0.001 Emberger syndrome Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently... BeFree 25619630 Detail
0.097 myelodysplastic syndrome The presence of somatic mutations in splicing factor 3b subunit 1 (SF3B1) in pat... BeFree,GAD,MGD 25481243 Detail
0.097 myelodysplastic syndrome Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently... BeFree,GAD,MGD 25619630 Detail
0.097 myelodysplastic syndrome Heterozygous germline mutations in the zinc finger transcription factor GATA2 ha... BeFree,GAD,MGD 26214525 Detail
<0.001 Cytogenetically normal acute myeloid leukemia NA BeFree Detail
0.004 Primary myelofibrosis The third group (including ASXL1) contained mutations with low frequency in PMF ... BeFree 25252869 Detail
0.002 anemia NA BeFree Detail
0.001 aplastic anemia NA BeFree Detail
0.001 Refractory anemias NA BeFree Detail
0.004 Refractory anaemia with excess blasts NA BeFree Detail
<0.001 Anophthalmos NA BeFree Detail
<0.001 rheumatoid arthritis NA BeFree Detail
0.001 Blast Phase The study also suggests pathogenetic roles for SETBP1 and ASXL1 mutations in dis... BeFree 25850813 Detail
0.002 Malignant neoplasm of breast The efficacy of the software is verified through MDS and clustering and tested w... BeFree 25905921 Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
A 14-yr-old male was admitted to our hospital with MDS and the chromosomal abnormality 45,XY,der(5;1... DisGeNET Detail
AML with gain of chromosome 8 as the sole chromosomal abnormality (+8sole) is associated with a spec... DisGeNET Detail
Karyotype analysis was performed in 179 patients with AML or MDS with the different chromosomal aber... 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
RUNX1 translocations and amplifications have been implicated in acute myeloblastic leukemia, acute l... DisGeNET Detail
Higher Robo4 expression was closely associated with lower white blood cell counts, expression of HLA... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
ASXL1 mutations are infrequent in young patients with primary acute myeloid leukemia and their detec... DisGeNET Detail
A recent report in Nature now demonstrates that a specific mutation in mouse collagen-expressing ost... DisGeNET Detail
In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles decreased according to... DisGeNET Detail
Although the frequency of evolution from hypocellular MDS to AML is low, our results suggest that so... DisGeNET Detail
SETBP1-MT collaborated with ASXL1-MT in inducing acute myeloid leukemia in vivo. DisGeNET Detail
This review focuses on the phenotype of newly identified genes, including NPM1, IDH1/2, TET2, MLL, D... DisGeNET Detail
TP53 was the most common mutated gene in t-MDS (35.7%) as well as t-AML (33.3%), significantly highe... DisGeNET Detail
AML with gain of chromosome 8 as the sole chromosomal abnormality (+8sole) is associated with a spec... DisGeNET Detail
ASXL1 mutations in younger adult patients with acute myeloid leukemia: a study by the German-Austria... DisGeNET Detail
What came first: MDS or AML? DisGeNET Detail
This TP53 mutation pattern was strikingly similar to that observed in de novo MDS/AML. DisGeNET Detail
In addition, mutations in epigenetic regulators such as DNMT3A, TET2, and ASXL1 have recently been f... DisGeNET Detail
Karyotype analysis was performed in 179 patients with AML or MDS with the different chromosomal aber... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The study group included 13 MPN and four MDS/MPN patients (seven polycythemia vera (PV); four essent... DisGeNET Detail
Survival in young adults with CMML, although higher than in older patients, is poor and even worse i... DisGeNET Detail
Here, we review recent biologic observations that support the current CMML WHO classification, such ... DisGeNET Detail
The study also suggests pathogenetic roles for SETBP1 and ASXL1 mutations in disease evolution into ... DisGeNET Detail
Furthermore, the majority of the patients with CSF3R-mutated CNL also expressed other mutations, suc... DisGeNET Detail
ASXL1 mutations are frequent and prognostically detrimental in CSF3R-mutated chronic neutrophilic le... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Heterozygous germline mutations in the zinc finger transcription factor GATA2 have recently been sho... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS), the Hoehn and Ya... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles decreased according to... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The study group included 13 MPN and four MDS/MPN patients (seven polycythemia vera (PV); four essent... DisGeNET Detail
The presence of somatic mutations in splicing factor 3b subunit 1 (SF3B1) in patients with Myelodysp... DisGeNET Detail
Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC s... DisGeNET Detail
Heterozygous germline mutations in the zinc finger transcription factor GATA2 have recently been sho... DisGeNET Detail
The study group included 13 MPN and four MDS/MPN patients (seven polycythemia vera (PV); four essent... DisGeNET Detail
Genes in histone modification [BAP1 (n = 6; 13%), SETD2 (n = 5; 11%), ASXL1 (n = 2; 4%)], chromatin ... 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
Among them, five patients (two PV, two MPN-U, and one MDS/MPN-U) progressed to MF and three patients... DisGeNET Detail
NA DisGeNET Detail
SETBP1 mutations drive leukemic transformation in ASXL1-mutated MDS. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Few patients in remission of Ph-positive chronic myelogenous leukemia (CML) develop Ph-negative MDS/... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
ASXL1 mutations were associated with older age (P<0.0001), male sex (P=0.041), secondary acute myelo... 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 aim of our study was 1) to define if the amplification of c-MYC, MLL and RUNX1 genes is related ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPN... DisGeNET Detail
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... DisGeNET Detail
Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one c... DisGeNET Detail
The efficacy of the software is verified through MDS and clustering and tested with available 11 fam... DisGeNET Detail
The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The study group included 13 MPN and four MDS/MPN patients (seven polycythemia vera (PV); four essent... DisGeNET Detail
According to the 2008 WHO classification, the category of myelodysplastic/myeloproliferative neoplas... DisGeNET Detail
In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles decreased according to... DisGeNET Detail
NA DisGeNET Detail
TP53 was the most common mutated gene in t-MDS (35.7%) as well as t-AML (33.3%), significantly highe... DisGeNET Detail
Myeloproliferative neoplasms (MPN) and myelodysplastic/myeloproliferative neoplasms (MDS/MPN) may tr... DisGeNET Detail
According to the 2008 WHO classification, the category of myelodysplastic/myeloproliferative neoplas... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC s... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC s... DisGeNET Detail
NA DisGeNET Detail
Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC s... DisGeNET Detail
The presence of somatic mutations in splicing factor 3b subunit 1 (SF3B1) in patients with Myelodysp... DisGeNET Detail
Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC s... DisGeNET Detail
Heterozygous germline mutations in the zinc finger transcription factor GATA2 have recently been sho... DisGeNET Detail
NA DisGeNET Detail
The third group (including ASXL1) contained mutations with low frequency in PMF and high frequency i... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The study also suggests pathogenetic roles for SETBP1 and ASXL1 mutations in disease evolution into ... DisGeNET Detail
The efficacy of the software is verified through MDS and clustering and tested with available 11 fam... 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
chr20:30,946,133-31,027,122
Variant Type
snv
Genome browser