chr17:2496906:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:2,496,906-2,588,909 |
| hg38 | chr17:2,593,612-2,685,615 |
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 | Cardiovascular Diseases | NA | GAD | Detail | |
| 0.002 | cerebral infarction | NA | GAD | Detail | |
| 0.002 | chorioamnionitis | NA | GAD | 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 | Karyotype analysis was performed in 179 patients with AML or MDS with the differ... | BeFree | 26214902 | Detail |
| <0.001 | Cognition Disorders | NA | BeFree | Detail | |
| 0.002 | Connective Tissue Diseases | NA | GAD | Detail | |
| 0.002 | Coronary heart disease | NA | GAD | Detail | |
| <0.001 | Presenile dementia | NA | BeFree | Detail | |
| <0.001 | dystonia | NA | BeFree | Detail | |
| <0.001 | Eosinophilia | NA | BeFree | Detail | |
| 0.001 | epilepsy | NA | BeFree | Detail | |
| <0.001 | Failure to Thrive | NA | BeFree | Detail | |
| 0.002 | Fetal Diseases | NA | GAD | Detail | |
| 0.002 | Fetal Membranes, Premature Rupture | NA | GAD | 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 | Inflammation | NA | GAD | Detail | |
| 0.002 | Premature Obstetric Labor | NA | GAD | Detail | |
| 0.005 | leukemia | RUNX1 translocations and amplifications have been implicated in acute myeloblast... | BeFree | 24912843 | Detail |
| <0.001 | chronic lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Acute lymphocytic leukemia | NA | BeFree | Detail | |
| 0.039 | Leukemia, Myelocytic, Acute | A recent report in Nature now demonstrates that a specific mutation in mouse col... | BeFree | 24589711 | Detail |
| 0.039 | Leukemia, Myelocytic, Acute | In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles de... | BeFree | 24845343 | Detail |
| 0.039 | Leukemia, Myelocytic, Acute | Although the frequency of evolution from hypocellular MDS to AML is low, our res... | BeFree | 25180186 | Detail |
| 0.039 | Leukemia, Myelocytic, Acute | TP53 was the most common mutated gene in t-MDS (35.7%) as well as t-AML (33.3%),... | BeFree | 25573287 | Detail |
| 0.039 | Leukemia, Myelocytic, Acute | What came first: MDS or AML? | BeFree | 25721039 | Detail |
| 0.039 | Leukemia, Myelocytic, Acute | This TP53 mutation pattern was strikingly similar to that observed in de novo MD... | BeFree | 25952993 | Detail |
| 0.039 | Leukemia, Myelocytic, Acute | Karyotype analysis was performed in 179 patients with AML or MDS with the differ... | BeFree | 26214902 | Detail |
| 0.001 | myeloid leukemia | NA | BeFree | Detail | |
| 0.001 | Myeloid Leukemia, Chronic | NA | BeFree | Detail | |
| 0.007 | Leukemia, Myelomonocytic, Chronic | The study group included 13 MPN and four MDS/MPN patients (seven polycythemia ve... | BeFree | 24845343 | 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 | medulloblastoma | NA | BeFree | Detail | |
| <0.001 | melanoma | NA | BeFree | Detail | |
| <0.001 | Mental Retardation | NA | BeFree | Detail | |
| <0.001 | microcephaly | 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 |
| 0.002 | Mucocutaneous Lymph Node Syndrome | NA | GAD | Detail | |
| 0.001 | multiple myeloma | NA | BeFree | Detail | |
| 0.002 | Musculoskeletal Diseases | NA | GAD | Detail | |
| <0.001 | myelofibrosis | NA | BeFree | Detail | |
| 0.002 | Myeloproliferative disease | In one patient (MDS/MPN-U) evolving to AML, the number of JAK2 mutant alleles de... | BeFree | 24845343 | Detail |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| <0.001 | nervous system disorder | NA | BeFree | Detail | |
| <0.001 | Ovarian Diseases | NA | BeFree | Detail | |
| 0.003 | Periodontitis, Juvenile | NA | LHGDN | Detail | |
| <0.001 | polycythemia vera | The study group included 13 MPN and four MDS/MPN patients (seven polycythemia ve... | BeFree | 24845343 | Detail |
| 0.002 | pre-eclampsia | NA | GAD | Detail | |
| 0.002 | Pregnancy Complications, Hematologic | NA | GAD | Detail | |
| 0.011 | Preleukemia | The presence of somatic mutations in splicing factor 3b subunit 1 (SF3B1) in pat... | BeFree | 25481243 | Detail |
| 0.011 | Preleukemia | Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently... | BeFree | 25619630 | Detail |
| 0.011 | Preleukemia | Heterozygous germline mutations in the zinc finger transcription factor GATA2 ha... | BeFree | 26214525 | Detail |
| <0.001 | Psychotic Disorders | NA | BeFree | Detail | |
| 0.006 | schizophrenia | NA | BeFree,GAD | Detail | |
| 0.002 | Dermatologic disorders | NA | GAD | Detail | |
| 0.001 | West syndrome | NA | BeFree | Detail | |
| <0.001 | Thrombocythemia, Essential | The study group included 13 MPN and four MDS/MPN patients (seven polycythemia ve... | BeFree | 24845343 | Detail |
| <0.001 | Trisomy | NA | BeFree | Detail | |
| <0.001 | Liver failure | NA | BeFree | Detail | |
| 0.003 | acute leukemia | NA | BeFree | Detail | |
| <0.001 | Monocytosis | NA | BeFree | Detail | |
| 0.009 | Premature Birth | NA | GAD | Detail | |
| <0.001 | Adenocarcinoma of lung (disorder) | NA | BeFree | Detail | |
| <0.001 | cholangiocarcinoma | Our results showed that miR-144 was reduced in CCA tissues and suggested that mi... | BeFree | 25479763 | Detail |
| <0.001 | Adult Acute Myeloblastic Leukemia | 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 | |
| 0.209 | Miller Dieker syndrome | Fluorescence in situ hybridization using a commercially available LIS1 probe fai... | BeFree,MGD,ORPHANET | 23933666 | Detail |
| 0.002 | Congenital anomaly of brain | NA | BeFree | Detail | |
| 0.132 | lissencephaly | NA | BeFree,CTD_human | Detail | |
| <0.001 | cerebellar hypoplasia | NA | BeFree | Detail | |
| 0.001 | Pachygyria | NA | BeFree | Detail | |
| <0.001 | Congenital anomaly of face | NA | BeFree | 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 | |
| 0.327 | Classical Lissencephaly | The authors suggest that the few patients found thus far with missense mutations... | UNIPROT | 11502906 | Detail |
| 0.327 | Classical Lissencephaly | Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. | UNIPROT | 14581661 | Detail |
| 0.001 | secondary acute myeloid leukemia | NA | BeFree | Detail | |
| <0.001 | de novo myelodysplastic syndromes | NA | BeFree | Detail | |
| <0.001 | anaplastic astrocytoma | NA | BeFree | Detail | |
| <0.001 | Nonorganic psychosis | NA | BeFree | Detail | |
| 0.001 | juvenile myelomonocytic leukemia | NA | BeFree | Detail | |
| <0.001 | prediabetes syndrome | NA | BeFree | Detail | |
| 0.001 | Hematologic Neoplasms | NA | BeFree | Detail | |
| <0.001 | Dystonia Disorders | NA | BeFree | Detail | |
| <0.001 | Developmental delay (disorder) | NA | BeFree | Detail | |
| 0.327 | Classical Lissencephaly | NA | BeFree,MGD,ORPHANET,UNIPROT | 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 | |
| 0.002 | Severe asthma | NA | GAD | Detail | |
| <0.001 | Severe depression | NA | BeFree | Detail | |
| 0.121 | Carcinogenesis | NA | BeFree,CTD_human | Detail | |
| 0.002 | Leukemogenesis | NA | BeFree | Detail | |
| <0.001 | thrombocytosis | The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count ... | BeFree | 21350094 | Detail |
| 0.001 | breast carcinoma | The efficacy of the software is verified through MDS and clustering and tested w... | BeFree | 25905921 | Detail |
| 0.039 | Leukemia, Myelocytic, Acute | Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AM... | BeFree | 22571758 | Detail |
| 0.001 | Myeloid Leukemia, Chronic | Previous studies have reported FLT3 mutation in as many as 9.2% of myeloprolifer... | BeFree | 23846442 | Detail |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| 0.001 | 5q-syndrome | NA | BeFree | Detail | |
| <0.001 | thrombocytosis | NA | BeFree | Detail | |
| <0.001 | Leukemia secondary | NA | BeFree | Detail | |
| 0.002 | Cardiomyopathies | NA | GAD | 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 |
| <0.001 | Partial Trisomy | NA | BeFree | 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 | 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 | Autism Spectrum Disorders | 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 | Malformations of Cortical Development, Group II | NA | BeFree | Detail | |
| <0.001 | X-Linked Lissencephaly | NA | BeFree | Detail | |
| <0.001 | campomelic dysplasia | NA | BeFree | Detail | |
| <0.001 | periventricular nodular heterotopia | NA | BeFree | Detail | |
| <0.001 | Agyria | NA | BeFree | Detail | |
| 0.122 | Classical Lissencephalies and Subcortical Band Heterotopias | NA | CTD_human,GAD | 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 | |
| 0.002 | Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified | NA | GAD | Detail | |
| <0.001 | Double cortex | 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 |
| 0.009 | myelodysplastic syndrome | The presence of somatic mutations in splicing factor 3b subunit 1 (SF3B1) in pat... | BeFree | 25481243 | Detail |
| 0.009 | myelodysplastic syndrome | Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently... | BeFree | 25619630 | Detail |
| 0.009 | myelodysplastic syndrome | Heterozygous germline mutations in the zinc finger transcription factor GATA2 ha... | BeFree | 26214525 | Detail |
| 0.002 | Infection | NA | GAD | Detail | |
| 0.120 | CHROMOSOME 17p13.3, CENTROMERIC, DUPLICATION SYNDROME | NA | ORPHANET | Detail | |
| 0.003 | Congenital Abnormality | NA | BeFree | Detail | |
| 0.001 | Primary myelofibrosis | NA | BeFree | Detail | |
| 0.002 | Alzheimer's disease | NA | GAD | 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 | |
| 0.007 | asthma | NA | GAD,LHGDN | Detail | |
| 0.002 | atherosclerosis | NA | GAD | Detail | |
| <0.001 | autistic disorder | NA | BeFree | Detail | |
| <0.001 | Blast Phase | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of breast | The efficacy of the software is verified through MDS and clustering and tested w... | BeFree | 25905921 | Detail |
| <0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| 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 |
| 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 |
| 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 |
| NA | DisGeNET | Detail |
| NA | 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 |
| TP53 was the most common mutated gene in t-MDS (35.7%) as well as t-AML (33.3%), significantly highe... | 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| NA | DisGeNET | Detail |
| NA | 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 |
| 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our results showed that miR-144 was reduced in CCA tissues and suggested that miR-144 may be an esse... | 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 |
| Fluorescence in situ hybridization using a commercially available LIS1 probe failed to detect a dele... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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 |
| The authors suggest that the few patients found thus far with missense mutations of LIS1 results fro... | DisGeNET | Detail |
| Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. | 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 |
| 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 |
| NA | DisGeNET | Detail |
| The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3... | DisGeNET | Detail |
| The efficacy of the software is verified through MDS and clustering and tested with available 11 fam... | DisGeNET | Detail |
| Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one c... | DisGeNET | Detail |
| Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPN... | 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 |
| NA | 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| The efficacy of the software is verified through MDS and clustering and tested with available 11 fam... | 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
- rs28936410 dbSNP
- Genome
- hg19
- Position
- chr17:2,496,906-2,588,909
- Variant Type
- snv
Genome browser