FLT3 (fms related receptor tyrosine kinase 3) - Rat Genome Database

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Gene: FLT3 (fms related receptor tyrosine kinase 3) Homo sapiens
Analyze
Symbol: FLT3
Name: fms related receptor tyrosine kinase 3
RGD ID: 1321714
HGNC Page HGNC:3765
Description: Predicted to enable several functions, including phosphatidylinositol 3-kinase binding activity; transmembrane signaling receptor activity; and ubiquitin protein ligase binding activity. Acts upstream of or within hemopoiesis. Located in endoplasmic reticulum. Implicated in gastrointestinal system cancer (multiple); leukemia (multiple); and prostate cancer. Biomarker of B-lymphoblastic leukemia/lymphoma; acute myeloid leukemia; myelofibrosis; and oral squamous cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CD135; CD135 antigen; fetal liver kinase 2; fetal liver kinase-2; FL cytokine receptor; FLK-2; FLK2; FLT-3; FLT3 receptor tyrosine kinase; fms related tyrosine kinase 3; fms-like tyrosine kinase 3; fms-related tyrosine kinase 3; growth factor receptor tyrosine kinase type III; receptor-type tyrosine-protein kinase FLT3; stem cell tyrosine kinase 1; STK-1; STK1; tyrosine-protein kinase receptor FLT3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381328,003,274 - 28,100,576 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1328,003,274 - 28,100,592 (-)EnsemblGRCh38hg38GRCh38
GRCh371328,577,411 - 28,674,713 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361327,475,411 - 27,572,729 (-)NCBINCBI36Build 36hg18NCBI36
Build 341327,475,752 - 27,572,703NCBI
Celera139,652,471 - 9,749,817 (-)NCBICelera
Cytogenetic Map13q12.2NCBI
HuRef139,398,611 - 9,496,033 (-)NCBIHuRef
CHM1_11328,546,018 - 28,643,312 (-)NCBICHM1_1
T2T-CHM13v2.01327,225,623 - 27,323,127 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
animal organ regeneration  (IEA,ISO)
antigen processing and presentation  (ISO)
B cell differentiation  (IBA,IEA,ISS)
cell population proliferation  (ISO)
cell surface receptor protein tyrosine kinase signaling pathway  (IEA,TAS)
cellular response to cytokine stimulus  (ISS,TAS)
cellular response to glucocorticoid stimulus  (IEA,ISO)
cellular response to virus  (ISO)
common myeloid progenitor cell proliferation  (ISS)
cytokine-mediated signaling pathway  (IBA,IEA,ISS,TAS)
dendritic cell differentiation  (ISS)
dendritic cell homeostasis  (ISO)
hemopoiesis  (IDA)
homeostasis of number of cells within a tissue  (ISO)
leukocyte homeostasis  (ISS)
lymph node development  (ISO)
lymphocyte differentiation  (ISO)
lymphocyte proliferation  (ISS)
lymphoid progenitor cell differentiation  (ISO)
myeloid progenitor cell differentiation  (ISO,ISS)
negative regulation of B cell differentiation  (ISO)
negative regulation of cell population proliferation  (ISO)
negative regulation of interleukin-6 production  (ISO)
negative regulation of tumor necrosis factor production  (ISO)
positive regulation of cell population proliferation  (TAS)
positive regulation of interferon-alpha production  (ISO)
positive regulation of interleukin-12 production  (ISO)
positive regulation of MAPK cascade  (TAS)
positive regulation of multicellular organism growth  (ISO)
positive regulation of phosphate metabolic process  (IEA)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (TAS)
positive regulation of protein modification process  (IEA)
positive regulation of protein phosphorylation  (ISO)
positive regulation of type II interferon production  (ISO)
positive regulation of tyrosine phosphorylation of STAT protein  (TAS)
post-embryonic development  (ISO)
pro-B cell differentiation  (ISO,ISS)
pro-T cell differentiation  (ISO)
regulation of apoptotic process  (TAS)
response to organonitrogen compound  (ISO)
signal transduction  (IEA)
spleen development  (ISO)
vascular endothelial growth factor signaling pathway  (IEA)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Identification of novel FLT-3 Asp835 mutations in adult acute myeloid leukaemia. Abu-Duhier FM, etal., Br J Haematol. 2001 Jun;113(4):983-8.
2. Role of FLT3 in the proliferation and aggressiveness of hepatocellular carcinoma. Aydin MM, etal., Turk J Med Sci. 2016 Feb 17;46(2):572-81. doi: 10.3906/sag-1501-173.
3. Emergence of polyclonal FLT3 tyrosine kinase domain mutations during sequential therapy with sorafenib and sunitinib in FLT3-ITD-positive acute myeloid leukemia. Baker SD, etal., Clin Cancer Res. 2013 Oct 15;19(20):5758-68. doi: 10.1158/1078-0432.CCR-13-1323. Epub 2013 Aug 22.
4. Flt3 ligand antitumor activity in a murine breast cancer model: a comparison with granulocyte-macrophage colony-stimulating factor and a potential mechanism of action. Braun SE, etal., Hum Gene Ther. 1999 Sep 1;10(13):2141-51.
5. Expression of the hematopoietic growth factor receptor FLT3 (STK-1/Flk2) in human leukemias. Carow CE, etal., Blood. 1996 Feb 1;87(3):1089-96.
6. Flt3-ligand induces transient tumor regression in an ectopic treatment model of major histocompatibility complex-negative prostate cancer. Ciavarra RP, etal., Cancer Res. 2000 Apr 15;60(8):2081-4.
7. Stability and prognostic influence of FLT3 mutations in paired initial and relapsed AML samples. Cloos J, etal., Leukemia. 2006 Jul;20(7):1217-20. Epub 2006 Apr 27.
8. FLT3-mediated p38-MAPK activation participates in the control of megakaryopoiesis in primary myelofibrosis. Desterke C, etal., Cancer Res. 2011 Apr 15;71(8):2901-15. doi: 10.1158/0008-5472.CAN-10-1731. Epub 2011 Apr 12.
9. qPCR in gastrointestinal stromal tumors: Evaluation of reference genes and expression analysis of KIT and the alternative receptor tyrosine kinases FLT3, CSF1-R, PDGFRB, MET and AXL. Fassunke J, etal., BMC Mol Biol. 2010 Dec 20;11:100. doi: 10.1186/1471-2199-11-100.
10. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
11. FLT3-ITD and tyrosine kinase domain mutants induce 2 distinct phenotypes in a murine bone marrow transplantation model. Grundler R, etal., Blood. 2005 Jun 15;105(12):4792-9. Epub 2005 Feb 17.
12. FMS-like tyrosine kinase 3 (FLT3) amplification in patients with metastatic colorectal cancer. Hasegawa H, etal., Cancer Sci. 2021 Jan;112(1):314-322. doi: 10.1111/cas.14693. Epub 2020 Nov 20.
13. Safety and biological activity of repeated doses of recombinant human Flt3 ligand in patients with bone scan-negative hormone-refractory prostate cancer. Higano CS, etal., Clin Cancer Res. 2004 Feb 15;10(4):1219-25.
14. Promoter-associated DNA methylation & expression profiling of genes (FLT 3, EPB41L3 & SFN) in patients with oral squamous cell carcinoma in the Khasi & Jaintia population of Meghalaya, India. Khongsti S, etal., Indian J Med Res. 2019 Dec;150(6):584-591. doi: 10.4103/ijmr.IJMR_620_18.
15. Interleukin-15 is associated with disease severity in viral bronchiolitis. Leahy TR, etal., Eur Respir J. 2016 Jan;47(1):212-22. doi: 10.1183/13993003.00642-2015. Epub 2015 Nov 5.
16. FLT3 mutations confer enhanced proliferation and survival properties to multipotent progenitors in a murine model of chronic myelomonocytic leukemia. Lee BH, etal., Cancer Cell. 2007 Oct;12(4):367-80.
17. BPR1J-097, a novel FLT3 kinase inhibitor, exerts potent inhibitory activity against AML. Lin WH, etal., Br J Cancer. 2012 Jan 31;106(3):475-81. doi: 10.1038/bjc.2011.564. Epub 2011 Dec 20.
18. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
19. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
20. NPMc+ cooperates with Flt3/ITD mutations to cause acute leukemia recapitulating human disease. Rau R, etal., Exp Hematol. 2014 Feb;42(2):101-13.e5. doi: 10.1016/j.exphem.2013.10.005. Epub 2013 Oct 29.
21. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
22. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
23. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
24. Effect of Flt3 ligand gene transfer in experimental pancreatic cancer. Ryschich E, etal., Int J Colorectal Dis. 2007 Feb;22(2):215-23. Epub 2006 Mar 10.
25. Orthotopic treatment model of prostate cancer and metastasis in the immunocompetent mouse: efficacy of flt3 ligand immunotherapy. Somers KD, etal., Int J Cancer. 2003 Dec 10;107(5):773-80.
26. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
27. Activating mutation of D835 within the activation loop of FLT3 in human hematologic malignancies. Yamamoto Y, etal., Blood. 2001 Apr 15;97(8):2434-9.
Additional References at PubMed
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PMID:14759363   PMID:14977832   PMID:14981546   PMID:14982881   PMID:15044257   PMID:15054042   PMID:15059064   PMID:15061200   PMID:15166029   PMID:15167911   PMID:15178581   PMID:15242879  
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PMID:30320942   PMID:30372901   PMID:30572745   PMID:30651634   PMID:30659317   PMID:30686591   PMID:30695511   PMID:30706524   PMID:30710101   PMID:30828789   PMID:30898150   PMID:30923103  
PMID:30926392   PMID:30953031   PMID:31034878   PMID:31066629   PMID:31089248   PMID:31147598   PMID:31186273   PMID:31201827   PMID:31244296   PMID:31285539   PMID:31395602   PMID:31432396  
PMID:31434952   PMID:31511612   PMID:31515354   PMID:31518054   PMID:31554356   PMID:31606550   PMID:31645666   PMID:31650168   PMID:31669649   PMID:31756575   PMID:31790499   PMID:31819100  
PMID:31821677   PMID:31943762   PMID:31943770   PMID:31955503   PMID:31963113   PMID:31967735   PMID:32149729   PMID:32155324   PMID:32163103   PMID:32173273   PMID:32296014   PMID:32299905  
PMID:32332018   PMID:32388535   PMID:32393312   PMID:32447933   PMID:32460405   PMID:32495317   PMID:32533751   PMID:32543003   PMID:32547322   PMID:32581359   PMID:32583303   PMID:32668024  
PMID:32680424   PMID:32707033   PMID:32712325   PMID:32843624   PMID:32898396   PMID:32955823   PMID:33078658   PMID:33091616   PMID:33109387   PMID:33112537   PMID:33119202   PMID:33123895  
PMID:33149267   PMID:33182501   PMID:33226740   PMID:33289421   PMID:33340276   PMID:33371116   PMID:33514926   PMID:33550446   PMID:33592069   PMID:33598693   PMID:33623141   PMID:33631087  
PMID:33661592   PMID:33780043   PMID:33811005   PMID:33817952   PMID:33830077   PMID:33851200   PMID:33971801   PMID:34003103   PMID:34024909   PMID:34045454   PMID:34070902   PMID:34099621  
PMID:34101344   PMID:34108128   PMID:34168220   PMID:34169421   PMID:34217323   PMID:34289175   PMID:34299191   PMID:34299222   PMID:34316017   PMID:34348451   PMID:34376373   PMID:34487021  
PMID:34521806   PMID:34550682   PMID:34671057   PMID:34723452   PMID:34750506   PMID:34811450   PMID:34830393   PMID:34831215   PMID:34863627   PMID:34876631   PMID:34896257   PMID:35068331  
PMID:35086749   PMID:35092883   PMID:35281004   PMID:35350997   PMID:35354918   PMID:35384245   PMID:35412895   PMID:35485701   PMID:35796012   PMID:35876828   PMID:35900493   PMID:35901509  
PMID:35906694   PMID:36104354   PMID:36226489   PMID:36232688   PMID:36384254   PMID:36395068   PMID:36403191   PMID:36407352   PMID:36444394   PMID:36485136   PMID:36539954   PMID:36542496  
PMID:36738279   PMID:36881031   PMID:37012202   PMID:37066885   PMID:37147424   PMID:37246158   PMID:37341821   PMID:37356962   PMID:37428863   PMID:37435718   PMID:37485586   PMID:37519024  
PMID:37759552   PMID:37783807   PMID:38049555   PMID:38495876   PMID:38625438  


Genomics

Comparative Map Data
FLT3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381328,003,274 - 28,100,576 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1328,003,274 - 28,100,592 (-)EnsemblGRCh38hg38GRCh38
GRCh371328,577,411 - 28,674,713 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361327,475,411 - 27,572,729 (-)NCBINCBI36Build 36hg18NCBI36
Build 341327,475,752 - 27,572,703NCBI
Celera139,652,471 - 9,749,817 (-)NCBICelera
Cytogenetic Map13q12.2NCBI
HuRef139,398,611 - 9,496,033 (-)NCBIHuRef
CHM1_11328,546,018 - 28,643,312 (-)NCBICHM1_1
T2T-CHM13v2.01327,225,623 - 27,323,127 (-)NCBIT2T-CHM13v2.0
Flt3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395147,267,551 - 147,337,299 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5147,267,551 - 147,337,299 (-)EnsemblGRCm39 Ensembl
GRCm385147,330,741 - 147,400,489 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5147,330,741 - 147,400,489 (-)EnsemblGRCm38mm10GRCm38
MGSCv375148,142,317 - 148,212,065 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365147,641,095 - 147,710,644 (-)NCBIMGSCv36mm8
Celera5145,322,183 - 145,394,029 (-)NCBICelera
Cytogenetic Map5G3NCBI
cM Map586.88NCBI
Flt3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81212,660,035 - 12,735,584 (+)NCBIGRCr8
mRatBN7.2127,623,930 - 7,699,474 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl127,623,930 - 7,699,474 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx128,309,422 - 8,384,638 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0128,932,574 - 9,007,795 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0127,960,581 - 8,035,804 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0129,360,439 - 9,437,004 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl129,360,672 - 9,436,570 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01211,478,443 - 11,552,730 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4128,193,629 - 8,268,682 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1128,280,429 - 8,290,827 (+)NCBI
Celera129,364,576 - 9,437,757 (+)NCBICelera
Cytogenetic Map12p11NCBI
Flt3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554977,357,212 - 7,461,439 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554977,357,533 - 7,441,215 (-)NCBIChiLan1.0ChiLan1.0
FLT3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21427,590,058 - 27,688,013 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11318,694,458 - 18,792,575 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0139,283,747 - 9,381,553 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11327,627,178 - 27,694,863 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1327,627,178 - 27,723,940 (-)Ensemblpanpan1.1panPan2
FLT3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12511,551,372 - 11,670,891 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2511,581,206 - 11,692,284 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2511,657,250 - 11,733,707 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02511,678,532 - 11,799,840 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2511,678,653 - 11,799,832 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12511,617,543 - 11,693,992 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02511,610,080 - 11,686,320 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02511,653,606 - 11,730,223 (+)NCBIUU_Cfam_GSD_1.0
Flt3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945172,712,952 - 172,782,113 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647223,170,470 - 23,256,904 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647223,169,967 - 23,239,178 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FLT3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl115,370,496 - 5,455,358 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1115,370,475 - 5,455,439 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2114,980,781 - 5,141,022 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FLT3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.137,117,579 - 7,222,600 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl37,116,947 - 7,222,849 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605737,168,175 - 37,271,421 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Flt3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477610,435,850 - 10,517,066 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477610,407,083 - 10,516,350 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FLT3
207 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
FLT3, INTERNAL TANDEM DUP duplication Leukemia, acute myeloid, reduced survival in, somatic [RCV000017658] Chr13:13q12 pathogenic
NM_004119.3(FLT3):c.2504A>T (p.Asp835Val) single nucleotide variant Acute lymphoid leukemia [RCV000017661]|Acute myeloid leukemia [RCV000017660] Chr13:28018504 [GRCh38]
Chr13:28592641 [GRCh37]
Chr13:13q12.2
pathogenic|other
NM_004119.3(FLT3):c.2503G>C (p.Asp835His) single nucleotide variant Acute myeloid leukemia [RCV000017662] Chr13:28018505 [GRCh38]
Chr13:28592642 [GRCh37]
Chr13:13q12.2
pathogenic|other
NM_004119.3(FLT3):c.2503G>A (p.Asp835Asn) single nucleotide variant Acute myeloid leukemia [RCV000017663] Chr13:28018505 [GRCh38]
Chr13:28592642 [GRCh37]
Chr13:13q12.2
pathogenic|other
FLT3, ASP835GLU variation Leukemia, acute myeloid, somatic [RCV000017664]|AML - Acute myeloid leukemia [RCV000017664] Chr13:13q12 pathogenic|other
NM_004119.3(FLT3):c.2503G>T (p.Asp835Tyr) single nucleotide variant Acute lymphoid leukemia [RCV000017666]|Acute myeloid leukemia [RCV000017665] Chr13:28018505 [GRCh38]
Chr13:28592642 [GRCh37]
Chr13:13q12.2
pathogenic|other
NM_004119.3(FLT3):c.2503_2505del (p.Asp835del) deletion Acute myeloid leukemia [RCV000017667] Chr13:28018503..28018505 [GRCh38]
Chr13:28592640..28592642 [GRCh37]
Chr13:13q12.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other
NM_004119.3(FLT3):c.1777_1779del (p.Asp593del) deletion Acute lymphoid leukemia [RCV000017668] Chr13:28034140..28034142 [GRCh38]
Chr13:28608277..28608279 [GRCh37]
Chr13:13q12.2
pathogenic|other
NM_004119.3(FLT3):c.2520_2521insGGATCC (p.Ser840_Asn841insGlySer) insertion Acute myeloid leukemia [RCV000017659] Chr13:28018487..28018488 [GRCh38]
Chr13:28592624..28592625 [GRCh37]
Chr13:13q12.2
pathogenic|other
NM_004119.2(FLT3):c.1942+763A>T single nucleotide variant Lung cancer [RCV000097814] Chr13:28033124 [GRCh38]
Chr13:28607261 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.2(FLT3):c.369-1895A>T single nucleotide variant Lung cancer [RCV000097815] Chr13:28059357 [GRCh38]
Chr13:28633494 [GRCh37]
Chr13:13q12.2
uncertain significance
GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3 copy number gain See cases [RCV000053729] Chr13:18958091..31090460 [GRCh38]
Chr13:19532231..31664597 [GRCh37]
Chr13:18430231..30562597 [NCBI36]
Chr13:13q12.11-12.3
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 copy number gain See cases [RCV000053721] Chr13:18676442..37656039 [GRCh38]
Chr13:19250582..38230176 [GRCh37]
Chr13:18148582..37128176 [NCBI36]
Chr13:13q11-13.3
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
NM_004119.2(FLT3):c.2890G>A (p.Glu964Lys) single nucleotide variant Malignant melanoma [RCV000062655] Chr13:28004144 [GRCh38]
Chr13:28578281 [GRCh37]
Chr13:27476281 [NCBI36]
Chr13:13q12.2
not provided
NM_004119.3(FLT3):c.1249A>C (p.Ile417Leu) single nucleotide variant not provided [RCV000965256]|not specified [RCV000121115] Chr13:28037245 [GRCh38]
Chr13:28611382 [GRCh37]
Chr13:13q12.2
benign|not provided
NM_004119.3(FLT3):c.1669G>A (p.Val557Ile) single nucleotide variant not provided [RCV001636679]|not specified [RCV000121116] Chr13:28034336 [GRCh38]
Chr13:28608473 [GRCh37]
Chr13:13q12.2
benign|not provided
NM_004119.3(FLT3):c.2050T>C (p.Ser684Pro) single nucleotide variant not specified [RCV000121117] Chr13:28028181 [GRCh38]
Chr13:28602318 [GRCh37]
Chr13:13q12.2
not provided
NM_004119.3(FLT3):c.46G>C (p.Val16Leu) single nucleotide variant not provided [RCV000898151]|not specified [RCV000121118] Chr13:28070610 [GRCh38]
Chr13:28644747 [GRCh37]
Chr13:13q12.2
likely benign|not provided
NM_004119.3(FLT3):c.2858C>T (p.Ala953Val) single nucleotide variant not specified [RCV000121119] Chr13:28014453 [GRCh38]
Chr13:28588590 [GRCh37]
Chr13:13q12.2
not provided
NM_004119.3(FLT3):c.2888C>T (p.Ser963Leu) single nucleotide variant not provided [RCV001491847]|not specified [RCV000121120] Chr13:28004146 [GRCh38]
Chr13:28578283 [GRCh37]
Chr13:13q12.2
likely benign|not provided
NM_004119.3(FLT3):c.2957C>T (p.Pro986Leu) single nucleotide variant not specified [RCV000121121] Chr13:28004077 [GRCh38]
Chr13:28578214 [GRCh37]
Chr13:13q12.2
not provided
NM_004119.3(FLT3):c.2918G>A (p.Arg973Gln) single nucleotide variant not provided [RCV000898150]|not specified [RCV000121122] Chr13:28004116 [GRCh38]
Chr13:28578253 [GRCh37]
Chr13:13q12.2
likely benign|not provided
NM_004119.3(FLT3):c.2962G>C (p.Ala988Pro) single nucleotide variant not provided [RCV000884013]|not specified [RCV000121123] Chr13:28004072 [GRCh38]
Chr13:28578209 [GRCh37]
Chr13:13q12.2
benign|not provided
NM_004119.3(FLT3):c.2971G>A (p.Glu991Lys) single nucleotide variant not specified [RCV000121124] Chr13:28004063 [GRCh38]
Chr13:28578200 [GRCh37]
Chr13:13q12.2
not provided
NM_004119.3(FLT3):c.190G>A (p.Gly64Arg) single nucleotide variant not specified [RCV000121125] Chr13:28062045 [GRCh38]
Chr13:28636182 [GRCh37]
Chr13:13q12.2
not provided
NM_004119.3(FLT3):c.452A>G (p.Asn151Ser) single nucleotide variant not specified [RCV000121126] Chr13:28057379 [GRCh38]
Chr13:28631516 [GRCh37]
Chr13:13q12.2
not provided
NM_004119.3(FLT3):c.605A>G (p.Gln202Arg) single nucleotide variant not specified [RCV000121127] Chr13:28052554 [GRCh38]
Chr13:28626691 [GRCh37]
Chr13:13q12.2
not provided
NM_004119.3(FLT3):c.580G>A (p.Val194Met) single nucleotide variant not provided [RCV000972168]|not specified [RCV000121128] Chr13:28052579 [GRCh38]
Chr13:28626716 [GRCh37]
Chr13:13q12.2
benign|not provided
NM_004119.3(FLT3):c.680C>T (p.Thr227Met) single nucleotide variant not provided [RCV001657761]|not specified [RCV000121129] Chr13:28050157 [GRCh38]
Chr13:28624294 [GRCh37]
Chr13:13q12.2
benign|not provided
NM_004119.3(FLT3):c.833A>C (p.Asn278Thr) single nucleotide variant not specified [RCV000121130] Chr13:28049684 [GRCh38]
Chr13:28623821 [GRCh37]
Chr13:13q12.2
not provided
NM_004119.3(FLT3):c.784C>T (p.Leu262Phe) single nucleotide variant not specified [RCV000121131] Chr13:28049733 [GRCh38]
Chr13:28623870 [GRCh37]
Chr13:13q12.2
not provided
NM_004119.3(FLT3):c.844G>A (p.Gly282Arg) single nucleotide variant not specified [RCV000121132] Chr13:28049673 [GRCh38]
Chr13:28623810 [GRCh37]
Chr13:13q12.2
not provided
NM_004119.3(FLT3):c.970G>A (p.Asp324Asn) single nucleotide variant FLT3-related condition [RCV003915207]|not specified [RCV000121133] Chr13:28049450 [GRCh38]
Chr13:28623587 [GRCh37]
Chr13:13q12.2
likely benign|not provided
NM_004119.3(FLT3):c.1073A>T (p.Asp358Val) single nucleotide variant not provided [RCV000908807]|not specified [RCV000121134] Chr13:28048407 [GRCh38]
Chr13:28622544 [GRCh37]
Chr13:13q12.2
benign|not provided
NM_004119.3(FLT3):c.1181A>G (p.Gln394Arg) single nucleotide variant not specified [RCV000121135] Chr13:28048299 [GRCh38]
Chr13:28622436 [GRCh37]
Chr13:13q12.2
not provided
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.13-12.3(chr13:26965244-30097858)x3 copy number gain See cases [RCV000135283] Chr13:26965244..30097858 [GRCh38]
Chr13:27539381..30671995 [GRCh37]
Chr13:26437381..29569995 [NCBI36]
Chr13:13q12.13-12.3
likely pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 copy number gain See cases [RCV000137892] Chr13:19671934..40914767 [GRCh38]
Chr13:20246074..41488903 [GRCh37]
Chr13:19144074..40386903 [NCBI36]
Chr13:13q12.11-14.11
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3 copy number gain See cases [RCV000141867] Chr13:18862146..33577351 [GRCh38]
Chr13:19436286..34151488 [GRCh37]
Chr13:18334286..33049488 [NCBI36]
Chr13:13q11-13.2
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
NM_004119.3(FLT3):c.1773_1793dup (p.Tyr597_Glu598insAspValAspPheArgGluTyr) duplication Myelodysplastic syndrome progressed to acute myeloid leukemia [RCV000203482] Chr13:28034125..28034126 [GRCh38]
Chr13:28608262..28608263 [GRCh37]
Chr13:13q12.2
pathogenic
t(13;17)(q12.2;q11.2) translocation Atypical chronic myeloid leukemia, BCR-ABL1 negative [RCV000721113] Chr17:27423778..27423779 [GRCh37]
Chr13:28608270..28608271 [GRCh37]
Chr13:13q12.2
Chr17:17q11.2
likely pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
NM_004119.3(FLT3):c.2506A>T (p.Ile836Phe) single nucleotide variant Acute myeloid leukemia [RCV000417837] Chr13:28018502 [GRCh38]
Chr13:28592639 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.1772A>G (p.Tyr591Cys) single nucleotide variant Acute myeloid leukemia [RCV000420236] Chr13:28034147 [GRCh38]
Chr13:28608284 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.2073T>G (p.Phe691Leu) single nucleotide variant Acute myeloid leukemia [RCV000420978] Chr13:28027222 [GRCh38]
Chr13:28601359 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.2525A>G (p.Tyr842Cys) single nucleotide variant Acute myeloid leukemia [RCV000421989] Chr13:28018483 [GRCh38]
Chr13:28592620 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.2508C>G (p.Ile836Met) single nucleotide variant Acute myeloid leukemia [RCV000422249] Chr13:28018500 [GRCh38]
Chr13:28592637 [GRCh37]
Chr13:13q12.2
pathogenic
NM_004119.3(FLT3):c.1987A>C (p.Lys663Gln) single nucleotide variant Acute myeloid leukemia [RCV000422333] Chr13:28028244 [GRCh38]
Chr13:28602381 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.2508_2510del (p.Ile836del) deletion Acute myeloid leukemia [RCV000424567] Chr13:28018498..28018500 [GRCh38]
Chr13:28592635..28592637 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.2505T>A (p.Asp835Glu) single nucleotide variant Acute myeloid leukemia [RCV000424615] Chr13:28018503 [GRCh38]
Chr13:28592640 [GRCh37]
Chr13:13q12.2
pathogenic
NM_004119.3(FLT3):c.1952A>G (p.Asp651Gly) single nucleotide variant Acute myeloid leukemia [RCV000426662] Chr13:28028279 [GRCh38]
Chr13:28602416 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.2523C>A (p.Asn841Lys) single nucleotide variant Acute myeloid leukemia [RCV000427616] Chr13:28018485 [GRCh38]
Chr13:28592622 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.2028C>G (p.Asn676Lys) single nucleotide variant Acute myeloid leukemia [RCV000427705] Chr13:28028203 [GRCh38]
Chr13:28602340 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.2506A>G (p.Ile836Val) single nucleotide variant Acute myeloid leukemia [RCV000428691] Chr13:28018502 [GRCh38]
Chr13:28592639 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.2516A>G (p.Asp839Gly) single nucleotide variant Acute myeloid leukemia [RCV000429280] Chr13:28018492 [GRCh38]
Chr13:28592629 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.2073T>A (p.Phe691Leu) single nucleotide variant Acute myeloid leukemia [RCV000431699] Chr13:28027222 [GRCh38]
Chr13:28601359 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.2524T>C (p.Tyr842His) single nucleotide variant Acute myeloid leukemia [RCV000431811] Chr13:28018484 [GRCh38]
Chr13:28592621 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.1780T>C (p.Phe594Leu) single nucleotide variant Acute myeloid leukemia [RCV000432251] Chr13:28034139 [GRCh38]
Chr13:28608276 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.2506A>C (p.Ile836Leu) single nucleotide variant Acute myeloid leukemia [RCV000432941] Chr13:28018502 [GRCh38]
Chr13:28592639 [GRCh37]
Chr13:13q12.2
pathogenic
NM_004119.3(FLT3):c.2028C>A (p.Asn676Lys) single nucleotide variant Acute myeloid leukemia [RCV000434039] Chr13:28028203 [GRCh38]
Chr13:28602340 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.1775T>C (p.Val592Ala) single nucleotide variant Acute myeloid leukemia [RCV000435462] Chr13:28034144 [GRCh38]
Chr13:28608281 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.1855G>T (p.Gly619Cys) single nucleotide variant Acute myeloid leukemia [RCV000437384] Chr13:28033974 [GRCh38]
Chr13:28608111 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.2503_2504delinsTT (p.Asp835Phe) indel Acute myeloid leukemia [RCV000439080] Chr13:28018504..28018505 [GRCh38]
Chr13:28592641..28592642 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.2521A>C (p.Asn841His) single nucleotide variant Acute myeloid leukemia [RCV000440005] Chr13:28018487 [GRCh38]
Chr13:28592624 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.1771T>G (p.Tyr591Asp) single nucleotide variant Acute myeloid leukemia [RCV000441431] Chr13:28034148 [GRCh38]
Chr13:28608285 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.2026A>G (p.Asn676Asp) single nucleotide variant Acute myeloid leukemia [RCV000443164] Chr13:28028205 [GRCh38]
Chr13:28602342 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.2059A>T (p.Ile687Phe) single nucleotide variant Acute myeloid leukemia [RCV000443196] Chr13:28027236 [GRCh38]
Chr13:28601373 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.2504A>C (p.Asp835Ala) single nucleotide variant Acute myeloid leukemia [RCV000444069] Chr13:28018504 [GRCh38]
Chr13:28592641 [GRCh37]
Chr13:13q12.2
pathogenic
NM_004119.3(FLT3):c.2505T>G (p.Asp835Glu) single nucleotide variant Acute myeloid leukemia [RCV000444148] Chr13:28018503 [GRCh38]
Chr13:28592640 [GRCh37]
Chr13:13q12.2
pathogenic
NM_004119.3(FLT3):c.2507T>G (p.Ile836Ser) single nucleotide variant Acute myeloid leukemia [RCV000444162] Chr13:28018501 [GRCh38]
Chr13:28592638 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.1715A>G (p.Tyr572Cys) single nucleotide variant Acute myeloid leukemia [RCV000444818] Chr13:28034204 [GRCh38]
Chr13:28608341 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.1736T>C (p.Val579Ala) single nucleotide variant Acute myeloid leukemia [RCV000445102] Chr13:28034183 [GRCh38]
Chr13:28608320 [GRCh37]
Chr13:13q12.2
likely pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_004119.3(FLT3):c.823G>A (p.Val275Ile) single nucleotide variant Inborn genetic diseases [RCV003297851] Chr13:28049694 [GRCh38]
Chr13:28623831 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.2716T>C (p.Phe906Leu) single nucleotide variant Inborn genetic diseases [RCV003281098] Chr13:28015194 [GRCh38]
Chr13:28589331 [GRCh37]
Chr13:13q12.2
uncertain significance
GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626443] Chr13:24080918..34361992 [GRCh37]
Chr13:13q12.12-13.2
drug response
GRCh37/hg19 13q12.2-12.3(chr13:28152002-29117192)x3 copy number gain See cases [RCV000512521] Chr13:28152002..29117192 [GRCh37]
Chr13:13q12.2-12.3
uncertain significance
NM_004119.3(FLT3):c.680del (p.Thr227fs) deletion sunitinib response - Toxicity/ADR [RCV000660791] Chr13:28050157 [GRCh38]
Chr13:28624294 [GRCh37]
Chr13:13q12.2
drug response
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1
pathogenic
NM_004119.3(FLT3):c.2211G>C (p.Met737Ile) single nucleotide variant Acute myeloid leukemia [RCV000709881] Chr13:28024940 [GRCh38]
Chr13:28599077 [GRCh37]
Chr13:13q12.2
not provided
t(12;13)(p13.2;q12.2) translocation Chronic myelomonocytic leukemia [RCV000721114] Chr12:12037520..12037521 [GRCh37]
Chr13:28608350..28608351 [GRCh37]
Chr12:12p13.2
Chr13:13q12.2
likely pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
NM_004119.3(FLT3):c.2418+38_2418+39del deletion not provided [RCV001708597] Chr13:28023311..28023312 [GRCh38]
Chr13:28597448..28597449 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.743-36dup duplication not provided [RCV001679875] Chr13:28049801..28049802 [GRCh38]
Chr13:28623938..28623939 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.2053+321C>T single nucleotide variant not provided [RCV001707487] Chr13:28027857 [GRCh38]
Chr13:28601994 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1206-313C>T single nucleotide variant not provided [RCV001611557] Chr13:28037601 [GRCh38]
Chr13:28611738 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1206-294T>C single nucleotide variant not provided [RCV001691733] Chr13:28037582 [GRCh38]
Chr13:28611719 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.2958G>A (p.Pro986=) single nucleotide variant not provided [RCV001534207] Chr13:28004076 [GRCh38]
Chr13:28578213 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.2654-102G>C single nucleotide variant not provided [RCV001691766] Chr13:28015358 [GRCh38]
Chr13:28589495 [GRCh37]
Chr13:13q12.2
benign
GRCh37/hg19 13q12.2-12.3(chr13:28669064-31367407)x1 copy number loss 13q12.2q12.3 deletion [RCV001579311] Chr13:28669064..31367407 [GRCh37]
Chr13:13q12.2-12.3
likely pathogenic
NM_004119.3(FLT3):c.1206-205A>G single nucleotide variant not provided [RCV001534505] Chr13:28037493 [GRCh38]
Chr13:28611630 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.2654-116G>A single nucleotide variant not provided [RCV001690468] Chr13:28015372 [GRCh38]
Chr13:28589509 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.166-4G>A single nucleotide variant not provided [RCV000917185] Chr13:28062073 [GRCh38]
Chr13:28636210 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.2290+173A>G single nucleotide variant not provided [RCV001693040] Chr13:28024688 [GRCh38]
Chr13:28598825 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.743-9A>G single nucleotide variant not provided [RCV000894053] Chr13:28049783 [GRCh38]
Chr13:28623920 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.2418+300G>A single nucleotide variant not provided [RCV001708589] Chr13:28023050 [GRCh38]
Chr13:28597187 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.368+189C>A single nucleotide variant not provided [RCV001692726] Chr13:28061678 [GRCh38]
Chr13:28635815 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.2542-304G>C single nucleotide variant not provided [RCV001610019] Chr13:28016005 [GRCh38]
Chr13:28590142 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1773C>T (p.Tyr591=) single nucleotide variant not provided [RCV000967307] Chr13:28034146 [GRCh38]
Chr13:28608283 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1380A>G (p.Pro460=) single nucleotide variant not provided [RCV000924828] Chr13:28035973 [GRCh38]
Chr13:28610110 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.96G>C (p.Val32=) single nucleotide variant not provided [RCV000969959] Chr13:28070560 [GRCh38]
Chr13:28644697 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.2415G>A (p.Lys805=) single nucleotide variant not provided [RCV000901957] Chr13:28023353 [GRCh38]
Chr13:28597490 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.2823G>A (p.Ser941=) single nucleotide variant not provided [RCV000882220] Chr13:28014488 [GRCh38]
Chr13:28588625 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.1036+8A>G single nucleotide variant not provided [RCV000937502] Chr13:28049376 [GRCh38]
Chr13:28623513 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.2622T>C (p.Tyr874=) single nucleotide variant not provided [RCV000920966] Chr13:28015621 [GRCh38]
Chr13:28589758 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.484+8C>T single nucleotide variant FLT3-related condition [RCV003968234]|not provided [RCV000900064] Chr13:28057339 [GRCh38]
Chr13:28631476 [GRCh37]
Chr13:13q12.2
benign|likely benign
NM_004119.3(FLT3):c.2679G>A (p.Pro893=) single nucleotide variant not provided [RCV000906519] Chr13:28015231 [GRCh38]
Chr13:28589368 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.2448C>T (p.Asn816=) single nucleotide variant not provided [RCV000900002] Chr13:28018560 [GRCh38]
Chr13:28592697 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.1926C>T (p.Ala642=) single nucleotide variant not provided [RCV000925569] Chr13:28033903 [GRCh38]
Chr13:28608040 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.1278A>G (p.Gln426=) single nucleotide variant not provided [RCV000948406] Chr13:28037216 [GRCh38]
Chr13:28611353 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1597+7C>T single nucleotide variant not provided [RCV000917877] Chr13:28035488 [GRCh38]
Chr13:28609625 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.1014A>G (p.Gln338=) single nucleotide variant not provided [RCV000940347] Chr13:28049406 [GRCh38]
Chr13:28623543 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.742+9A>G single nucleotide variant not provided [RCV000979258] Chr13:28050086 [GRCh38]
Chr13:28624223 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.1032C>T (p.Ile344=) single nucleotide variant not provided [RCV000903649] Chr13:28049388 [GRCh38]
Chr13:28623525 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.2533A>G (p.Arg845Gly) single nucleotide variant Acute myeloid leukemia [RCV003314385] Chr13:28018475 [GRCh38]
Chr13:28592612 [GRCh37]
Chr13:13q12.2
likely pathogenic
GRCh37/hg19 13q12.2(chr13:28083408-28591050)x3 copy number gain not provided [RCV001006554] Chr13:28083408..28591050 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.166-5C>T single nucleotide variant not provided [RCV000920938] Chr13:28062074 [GRCh38]
Chr13:28636211 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.972C>T (p.Asp324=) single nucleotide variant not provided [RCV000976787] Chr13:28049448 [GRCh38]
Chr13:28623585 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.1597+8A>G single nucleotide variant not provided [RCV000963307] Chr13:28035487 [GRCh38]
Chr13:28609624 [GRCh37]
Chr13:13q12.2
likely benign
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_004119.3(FLT3):c.1942+8A>G single nucleotide variant not provided [RCV000914164] Chr13:28033879 [GRCh38]
Chr13:28608016 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.2418+128G>A single nucleotide variant not provided [RCV001616768] Chr13:28023222 [GRCh38]
Chr13:28597359 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.2053+67CT[10] microsatellite not provided [RCV001679113] Chr13:28028090..28028091 [GRCh38]
Chr13:28602227..28602228 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1942+35A>C single nucleotide variant not provided [RCV001675118] Chr13:28033852 [GRCh38]
Chr13:28607989 [GRCh37]
Chr13:13q12.2
benign
NC_000013.11:g.28100741C>T single nucleotide variant not provided [RCV001619096] Chr13:28100741 [GRCh38]
Chr13:28674878 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.165+118G>T single nucleotide variant not provided [RCV001659587] Chr13:28070373 [GRCh38]
Chr13:28644510 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.615-184G>T single nucleotide variant not provided [RCV001686958] Chr13:28050406 [GRCh38]
Chr13:28624543 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.484+81C>T single nucleotide variant not provided [RCV001616050] Chr13:28057266 [GRCh38]
Chr13:28631403 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.2291-335dup duplication not provided [RCV001695802] Chr13:28023802..28023803 [GRCh38]
Chr13:28597939..28597940 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.44-81T>C single nucleotide variant not provided [RCV001615968] Chr13:28070693 [GRCh38]
Chr13:28644830 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1942+314C>G single nucleotide variant not provided [RCV001686076] Chr13:28033573 [GRCh38]
Chr13:28607710 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.44-136A>G single nucleotide variant not provided [RCV001710699] Chr13:28070748 [GRCh38]
Chr13:28644885 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1942+108A>T single nucleotide variant not provided [RCV001620913] Chr13:28033779 [GRCh38]
Chr13:28607916 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.615-72G>A single nucleotide variant not provided [RCV001694950] Chr13:28050294 [GRCh38]
Chr13:28624431 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.615-15C>A single nucleotide variant not provided [RCV001658494] Chr13:28050237 [GRCh38]
Chr13:28624374 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1423A>C (p.Thr475Pro) single nucleotide variant not provided [RCV000953670] Chr13:28035669 [GRCh38]
Chr13:28609806 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.420A>G (p.Glu140=) single nucleotide variant not provided [RCV000931759] Chr13:28057411 [GRCh38]
Chr13:28631548 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.1578G>C (p.Thr526=) single nucleotide variant not provided [RCV000947517] Chr13:28035514 [GRCh38]
Chr13:28609651 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1714T>C (p.Tyr572His) single nucleotide variant Multiple myeloma [RCV000984136] Chr13:28034205 [GRCh38]
Chr13:28608342 [GRCh37]
Chr13:13q12.2
likely pathogenic
NM_004119.3(FLT3):c.728G>A (p.Arg243Lys) single nucleotide variant FLT3-related condition [RCV003958181]|not provided [RCV000903543] Chr13:28050109 [GRCh38]
Chr13:28624246 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.369-4G>A single nucleotide variant not provided [RCV000931258] Chr13:28057466 [GRCh38]
Chr13:28631603 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.144G>A (p.Gly48=) single nucleotide variant not provided [RCV000917915] Chr13:28070512 [GRCh38]
Chr13:28644649 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.347C>G (p.Pro116Arg) single nucleotide variant not provided [RCV000920721] Chr13:28061888 [GRCh38]
Chr13:28636025 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.540C>T (p.Asp180=) single nucleotide variant not provided [RCV000910510] Chr13:28052619 [GRCh38]
Chr13:28626756 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.180G>A (p.Pro60=) single nucleotide variant not provided [RCV000911121] Chr13:28062055 [GRCh38]
Chr13:28636192 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.2199A>G (p.Pro733=) single nucleotide variant not provided [RCV000911150] Chr13:28027096 [GRCh38]
Chr13:28601233 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.2205C>T (p.Ser735=) single nucleotide variant not provided [RCV000913729] Chr13:28027090 [GRCh38]
Chr13:28601227 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.2979G>A (p.Ser993=) single nucleotide variant not provided [RCV000957162] Chr13:28004055 [GRCh38]
Chr13:28578192 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1815T>C (p.Phe605=) single nucleotide variant not provided [RCV000957163] Chr13:28034104 [GRCh38]
Chr13:28608241 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.2046A>G (p.Thr682=) single nucleotide variant not provided [RCV000911314] Chr13:28028185 [GRCh38]
Chr13:28602322 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.165+269C>G single nucleotide variant not provided [RCV001621270] Chr13:28070222 [GRCh38]
Chr13:28644359 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.20A>G (p.Asp7Gly) single nucleotide variant not provided [RCV001657534] Chr13:28100491 [GRCh38]
Chr13:28674628 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.882+13G>A single nucleotide variant not provided [RCV001662978] Chr13:28049622 [GRCh38]
Chr13:28623759 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.2753+27G>A single nucleotide variant not provided [RCV001644008] Chr13:28015130 [GRCh38]
Chr13:28589267 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1419-15T>C single nucleotide variant not provided [RCV001709786] Chr13:28035688 [GRCh38]
Chr13:28609825 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.166-240C>T single nucleotide variant not provided [RCV001620362] Chr13:28062309 [GRCh38]
Chr13:28636446 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.2054-273A>G single nucleotide variant not provided [RCV001594745] Chr13:28027514 [GRCh38]
Chr13:28601651 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1418+81A>G single nucleotide variant not provided [RCV001608257] Chr13:28035854 [GRCh38]
Chr13:28609991 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1418+75A>G single nucleotide variant not provided [RCV001688733] Chr13:28035860 [GRCh38]
Chr13:28609997 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.883-25C>A single nucleotide variant not provided [RCV001671958] Chr13:28049562 [GRCh38]
Chr13:28623699 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.2291-225C>T single nucleotide variant not provided [RCV001686336] Chr13:28023702 [GRCh38]
Chr13:28597839 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.485-214G>C single nucleotide variant not provided [RCV001673425] Chr13:28052888 [GRCh38]
Chr13:28627025 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1310-3T>C single nucleotide variant not provided [RCV001717967] Chr13:28036046 [GRCh38]
Chr13:28610183 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1598-267A>C single nucleotide variant not provided [RCV001617901] Chr13:28034674 [GRCh38]
Chr13:28608811 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.2053+59G>A single nucleotide variant not provided [RCV001598800] Chr13:28028119 [GRCh38]
Chr13:28602256 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.166-148G>A single nucleotide variant not provided [RCV001687704] Chr13:28062217 [GRCh38]
Chr13:28636354 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1205+224C>T single nucleotide variant not provided [RCV001710309] Chr13:28048051 [GRCh38]
Chr13:28622188 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1597+236A>G single nucleotide variant not provided [RCV001709411] Chr13:28035259 [GRCh38]
Chr13:28609396 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.2054-243G>A single nucleotide variant not provided [RCV001614413] Chr13:28027484 [GRCh38]
Chr13:28601621 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1206-285T>C single nucleotide variant not provided [RCV001668101] Chr13:28037573 [GRCh38]
Chr13:28611710 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.2653+65G>C single nucleotide variant not provided [RCV001666015] Chr13:28015525 [GRCh38]
Chr13:28589662 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.369-326A>G single nucleotide variant not provided [RCV001708784] Chr13:28057788 [GRCh38]
Chr13:28631925 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.2541+58A>G single nucleotide variant not provided [RCV001641833] Chr13:28018409 [GRCh38]
Chr13:28592546 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.615-297C>G single nucleotide variant not provided [RCV001708912] Chr13:28050519 [GRCh38]
Chr13:28624656 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1943-179A>G single nucleotide variant not provided [RCV001645357] Chr13:28028467 [GRCh38]
Chr13:28602604 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.44-256G>A single nucleotide variant not provided [RCV001690871] Chr13:28070868 [GRCh38]
Chr13:28645005 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.615-228G>A single nucleotide variant not provided [RCV001616427] Chr13:28050450 [GRCh38]
Chr13:28624587 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1205+56C>T single nucleotide variant not provided [RCV001693883] Chr13:28048219 [GRCh38]
Chr13:28622356 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.369-269T>C single nucleotide variant not provided [RCV001609519] Chr13:28057731 [GRCh38]
Chr13:28631868 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1419-36T>A single nucleotide variant not provided [RCV001663306] Chr13:28035709 [GRCh38]
Chr13:28609846 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.2419-187G>A single nucleotide variant not provided [RCV001663320] Chr13:28018776 [GRCh38]
Chr13:28592913 [GRCh37]
Chr13:13q12.2
benign
GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3 copy number gain not provided [RCV001258538] Chr13:23775339..30534624 [GRCh37]
Chr13:13q12.12-12.3
likely pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34
pathogenic
NM_004119.3(FLT3):c.1519A>G (p.Ile507Val) single nucleotide variant not provided [RCV001412668] Chr13:28035573 [GRCh38]
Chr13:28609710 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.1309+173T>C single nucleotide variant not provided [RCV001530781] Chr13:28037012 [GRCh38]
Chr13:28611149 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.2053+67CT[9] microsatellite not provided [RCV001666350] Chr13:28028090..28028093 [GRCh38]
Chr13:28602227..28602230 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.369-343G>A single nucleotide variant not provided [RCV001619277] Chr13:28057805 [GRCh38]
Chr13:28631942 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1309+106del deletion not provided [RCV001684018] Chr13:28037079 [GRCh38]
Chr13:28611216 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.288C>T (p.Asp96=) single nucleotide variant not provided [RCV001695317] Chr13:28061947 [GRCh38]
Chr13:28636084 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1310-175A>T single nucleotide variant not provided [RCV001687057] Chr13:28036218 [GRCh38]
Chr13:28610355 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1597+233C>G single nucleotide variant not provided [RCV001608864] Chr13:28035262 [GRCh38]
Chr13:28609399 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1309+345G>A single nucleotide variant not provided [RCV001654288] Chr13:28036840 [GRCh38]
Chr13:28610977 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1683A>G (p.Leu561=) single nucleotide variant FLT3-related condition [RCV003980769]|not provided [RCV001615875] Chr13:28034322 [GRCh38]
Chr13:28608459 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.2053+23A>G single nucleotide variant not provided [RCV001713507] Chr13:28028155 [GRCh38]
Chr13:28602292 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.166-106G>A single nucleotide variant not provided [RCV001674805] Chr13:28062175 [GRCh38]
Chr13:28636312 [GRCh37]
Chr13:13q12.2
benign
NM_004119.3(FLT3):c.1206-244G>A single nucleotide variant not provided [RCV001616158] Chr13:28037532 [GRCh38]
Chr13:28611669 [GRCh37]
Chr13:13q12.2
benign
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
t(13;14)(q12.2;q32.12) translocation Myeloid neoplasm [RCV002292429] Chr13:28034151..28034152 [GRCh38]
Chr14:92003435..92003436 [GRCh38]
Chr13:13q12.2
Chr14:14q32.12
pathogenic
NM_004119.3(FLT3):c.1082T>C (p.Ile361Thr) single nucleotide variant Inborn genetic diseases [RCV003253690] Chr13:28048398 [GRCh38]
Chr13:28622535 [GRCh37]
Chr13:13q12.2
uncertain significance
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34
pathogenic
NM_004119.3(FLT3):c.524A>G (p.Lys175Arg) single nucleotide variant Inborn genetic diseases [RCV002990373] Chr13:28052635 [GRCh38]
Chr13:28626772 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.2482T>C (p.Cys828Arg) single nucleotide variant Inborn genetic diseases [RCV002840278] Chr13:28018526 [GRCh38]
Chr13:28592663 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.1067G>A (p.Ser356Asn) single nucleotide variant Inborn genetic diseases [RCV002879587] Chr13:28048413 [GRCh38]
Chr13:28622550 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.1478G>T (p.Gly493Val) single nucleotide variant Inborn genetic diseases [RCV002771827] Chr13:28035614 [GRCh38]
Chr13:28609751 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.2616G>C (p.Trp872Cys) single nucleotide variant Inborn genetic diseases [RCV002865132] Chr13:28015627 [GRCh38]
Chr13:28589764 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.113T>A (p.Ile38Asn) single nucleotide variant Inborn genetic diseases [RCV002782209] Chr13:28070543 [GRCh38]
Chr13:28644680 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.871G>C (p.Ala291Pro) single nucleotide variant Inborn genetic diseases [RCV002911916] Chr13:28049646 [GRCh38]
Chr13:28623783 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.1512T>A (p.Ser504Arg) single nucleotide variant Inborn genetic diseases [RCV002926008] Chr13:28035580 [GRCh38]
Chr13:28609717 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.2881C>T (p.Arg961Cys) single nucleotide variant Inborn genetic diseases [RCV002739141] Chr13:28004153 [GRCh38]
Chr13:28578290 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.251A>G (p.Asp84Gly) single nucleotide variant Inborn genetic diseases [RCV002787114] Chr13:28061984 [GRCh38]
Chr13:28636121 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.770T>G (p.Leu257Trp) single nucleotide variant Inborn genetic diseases [RCV002826317] Chr13:28049747 [GRCh38]
Chr13:28623884 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.2014G>A (p.Glu672Lys) single nucleotide variant Inborn genetic diseases [RCV002940532] Chr13:28028217 [GRCh38]
Chr13:28602354 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.2882G>A (p.Arg961His) single nucleotide variant Inborn genetic diseases [RCV002897321] Chr13:28004152 [GRCh38]
Chr13:28578289 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.2554G>A (p.Val852Ile) single nucleotide variant not provided [RCV002943262] Chr13:28015689 [GRCh38]
Chr13:28589826 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.2126A>C (p.Lys709Thr) single nucleotide variant Inborn genetic diseases [RCV002722992] Chr13:28027169 [GRCh38]
Chr13:28601306 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.950T>A (p.Val317Glu) single nucleotide variant Inborn genetic diseases [RCV002652743] Chr13:28049470 [GRCh38]
Chr13:28623607 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.2642T>C (p.Ile881Thr) single nucleotide variant Inborn genetic diseases [RCV003203423] Chr13:28015601 [GRCh38]
Chr13:28589738 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.1286A>C (p.Lys429Thr) single nucleotide variant Inborn genetic diseases [RCV003205194] Chr13:28037208 [GRCh38]
Chr13:28611345 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.884G>A (p.Gly295Asp) single nucleotide variant Inborn genetic diseases [RCV003201301] Chr13:28049536 [GRCh38]
Chr13:28623673 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.843C>G (p.Phe281Leu) single nucleotide variant Inborn genetic diseases [RCV003286563] Chr13:28049674 [GRCh38]
Chr13:28623811 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.916A>C (p.Asn306His) single nucleotide variant Inborn genetic diseases [RCV003359464] Chr13:28049504 [GRCh38]
Chr13:28623641 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.1382C>T (p.Ser461Phe) single nucleotide variant Inborn genetic diseases [RCV003359892] Chr13:28035971 [GRCh38]
Chr13:28610108 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.1290G>C (p.Met430Ile) single nucleotide variant Inborn genetic diseases [RCV003375125] Chr13:28037204 [GRCh38]
Chr13:28611341 [GRCh37]
Chr13:13q12.2
uncertain significance
NM_004119.3(FLT3):c.1622A>G (p.Asn541Ser) single nucleotide variant Inborn genetic diseases [RCV003373341] Chr13:28034383 [GRCh38]
Chr13:28608520 [GRCh37]
Chr13:13q12.2
likely benign
GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3 copy number gain not specified [RCV003987034] Chr13:23329180..28663294 [GRCh37]
Chr13:13q12.12-12.2
uncertain significance
NM_004119.3(FLT3):c.1337C>T (p.Ser446Leu) single nucleotide variant FLT3-related condition [RCV003949452] Chr13:28036016 [GRCh38]
Chr13:28610153 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.285C>T (p.Val95=) single nucleotide variant FLT3-related condition [RCV003949779] Chr13:28061950 [GRCh38]
Chr13:28636087 [GRCh37]
Chr13:13q12.2
likely benign
NM_004119.3(FLT3):c.2439C>T (p.Ala813=) single nucleotide variant FLT3-related condition [RCV003964075] Chr13:28018569 [GRCh38]
Chr13:28592706 [GRCh37]
Chr13:13q12.2
likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR150hsa-miR-150-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23079661
MIR150hsa-miR-150-5pOncomiRDBexternal_infoNANA23079661

Predicted Target Of
Summary Value
Count of predictions:1252
Count of miRNA genes:532
Interacting mature miRNAs:574
Transcripts:ENST00000241453, ENST00000380982, ENST00000380987, ENST00000469894, ENST00000537084
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D13S993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371328,668,268 - 28,668,419UniSTSGRCh37
Build 361327,566,268 - 27,566,419RGDNCBI36
Celera139,743,356 - 9,743,507RGD
Cytogenetic Map13q12UniSTS
HuRef139,489,572 - 9,489,723UniSTS
SHGC-143954  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371328,671,896 - 28,672,168UniSTSGRCh37
Build 361327,569,896 - 27,570,168RGDNCBI36
Celera139,746,984 - 9,747,256RGD
Cytogenetic Map13q12UniSTS
HuRef139,493,200 - 9,493,472UniSTS
SHGC-143958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371328,670,949 - 28,671,065UniSTSGRCh37
Build 361327,568,949 - 27,569,065RGDNCBI36
Celera139,746,037 - 9,746,153RGD
Cytogenetic Map13q12UniSTS
HuRef139,492,253 - 9,492,369UniSTS
TNG Radiation Hybrid Map135044.0UniSTS
PMC137521P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371328,578,207 - 28,578,282UniSTSGRCh37
Build 361327,476,207 - 27,476,282RGDNCBI36
Celera139,653,267 - 9,653,342RGD
Cytogenetic Map13q12UniSTS
HuRef139,399,407 - 9,399,482UniSTS
D13S1716  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371328,588,589 - 28,588,688UniSTSGRCh37
Build 361327,486,589 - 27,486,688RGDNCBI36
Celera139,663,651 - 9,663,750RGD
Cytogenetic Map13q12UniSTS
HuRef139,409,791 - 9,409,890UniSTS
D13S802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371328,585,710 - 28,585,971UniSTSGRCh37
Build 361327,483,710 - 27,483,971RGDNCBI36
Celera139,660,772 - 9,661,033RGD
Cytogenetic Map13q12UniSTS
HuRef139,406,888 - 9,407,173UniSTS
D13S1380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371328,578,038 - 28,578,158UniSTSGRCh37
Build 361327,476,038 - 27,476,158RGDNCBI36
Celera139,653,098 - 9,653,218RGD
Cytogenetic Map13q12UniSTS
HuRef139,399,238 - 9,399,358UniSTS
TNG Radiation Hybrid Map134987.0UniSTS
Stanford-G3 RH Map13282.0UniSTS
NCBI RH Map13213.6UniSTS
GeneMap99-G3 RH Map13278.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 12 168 251 3 422 7 3 4
Low 876 1005 276 182 1274 88 1891 210 1409 163 702 716 97 599 997 1
Below cutoff 1402 1714 1343 394 329 328 2256 1788 1780 181 626 722 69 1 597 1669 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_130706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AL356915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW057705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW772610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI461248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC960802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L36162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK758122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT001895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT001896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT001897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT001898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U02687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U82002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z26652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000241453   ⟹   ENSP00000241453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1328,003,274 - 28,100,576 (-)Ensembl
RefSeq Acc Id: ENST00000380987   ⟹   ENSP00000370374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1328,003,614 - 28,100,592 (-)Ensembl
RefSeq Acc Id: ENST00000469894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1328,003,947 - 28,014,512 (-)Ensembl
RefSeq Acc Id: NM_004119   ⟹   NP_004110
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381328,003,274 - 28,100,576 (-)NCBI
GRCh371328,577,411 - 28,682,904 (-)NCBI
Build 361327,475,411 - 27,572,729 (-)NCBI Archive
HuRef139,398,611 - 9,496,033 (-)ENTREZGENE
CHM1_11328,546,018 - 28,643,312 (-)NCBI
T2T-CHM13v2.01327,225,623 - 27,323,127 (-)NCBI
Sequence:
RefSeq Acc Id: NR_130706
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381328,003,274 - 28,100,576 (-)NCBI
CHM1_11328,546,018 - 28,643,312 (-)NCBI
T2T-CHM13v2.01327,225,623 - 27,323,127 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011535015   ⟹   XP_011533317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381328,003,274 - 28,071,798 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011535018   ⟹   XP_011533320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381328,003,274 - 28,057,432 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017020486   ⟹   XP_016875975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381328,003,274 - 28,100,576 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017020488   ⟹   XP_016875977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381328,003,274 - 28,057,428 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047430216   ⟹   XP_047286172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381328,003,274 - 28,057,425 (-)NCBI
RefSeq Acc Id: XM_054374312   ⟹   XP_054230287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01327,225,623 - 27,294,371 (-)NCBI
RefSeq Acc Id: XM_054374313   ⟹   XP_054230288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01327,225,623 - 27,279,807 (-)NCBI
RefSeq Acc Id: XM_054374314   ⟹   XP_054230289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01327,225,623 - 27,279,814 (-)NCBI
RefSeq Acc Id: XM_054374315   ⟹   XP_054230290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01327,225,623 - 27,279,809 (-)NCBI
RefSeq Acc Id: XM_054374316   ⟹   XP_054230291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01327,225,623 - 27,272,568 (-)NCBI
Protein Sequences
Protein RefSeqs NP_004110 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533317 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533320 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875975 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875977 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286172 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230287 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230288 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230289 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230290 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230291 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA18947 (Get FASTA)   NCBI Sequence Viewer  
  AAA35487 (Get FASTA)   NCBI Sequence Viewer  
  AAB52916 (Get FASTA)   NCBI Sequence Viewer  
  AAI26351 (Get FASTA)   NCBI Sequence Viewer  
  AAI44040 (Get FASTA)   NCBI Sequence Viewer  
  AAI44041 (Get FASTA)   NCBI Sequence Viewer  
  CAA81393 (Get FASTA)   NCBI Sequence Viewer  
  CEO43471 (Get FASTA)   NCBI Sequence Viewer  
  EAX08424 (Get FASTA)   NCBI Sequence Viewer  
  EAX08425 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000241453
  ENSP00000241453.7
  ENSP00000370374.2
GenBank Protein P36888 (Get FASTA)   NCBI Sequence Viewer  
  QCQ05638 (Get FASTA)   NCBI Sequence Viewer  
  QIE08780 (Get FASTA)   NCBI Sequence Viewer  
  QIE08781 (Get FASTA)   NCBI Sequence Viewer  
  QIE08782 (Get FASTA)   NCBI Sequence Viewer  
  QIE08783 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_004110   ⟸   NM_004119
- Peptide Label: precursor
- UniProtKB: F5H0A0 (UniProtKB/Swiss-Prot),   B7ZLT8 (UniProtKB/Swiss-Prot),   B7ZLT7 (UniProtKB/Swiss-Prot),   A0AVG9 (UniProtKB/Swiss-Prot),   Q13414 (UniProtKB/Swiss-Prot),   P36888 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011533317   ⟸   XM_011535015
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011533320   ⟸   XM_011535018
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016875975   ⟸   XM_017020486
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016875977   ⟸   XM_017020488
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000241453   ⟸   ENST00000241453
RefSeq Acc Id: ENSP00000370374   ⟸   ENST00000380987
RefSeq Acc Id: XP_047286172   ⟸   XM_047430216
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054230287   ⟸   XM_054374312
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054230289   ⟸   XM_054374314
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054230290   ⟸   XM_054374315
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054230288   ⟸   XM_054374313
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054230291   ⟸   XM_054374316
- Peptide Label: isoform X3
Protein Domains
Ig-like   Ig-like C2-type   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P36888-F1-model_v2 AlphaFold P36888 1-993 view protein structure

Promoters
RGD ID:6790878
Promoter ID:HG_KWN:17393
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:ENST00000380987,   NM_004119,   UC010AAO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361327,572,431 - 27,572,931 (-)MPROMDB
RGD ID:7226115
Promoter ID:EPDNEW_H18803
Type:initiation region
Name:FLT3_1
Description:fms related tyrosine kinase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381328,100,571 - 28,100,631EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3765 AgrOrtholog
COSMIC FLT3 COSMIC
Ensembl Genes ENSG00000122025 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000241453 ENTREZGENE
  ENST00000241453.12 UniProtKB/Swiss-Prot
  ENST00000380987 ENTREZGENE
  ENST00000380987.2 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000122025 GTEx
HGNC ID HGNC:3765 ENTREZGENE
Human Proteome Map FLT3 Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Immunoglobulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_AS UniProtKB/Swiss-Prot
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot
  Tyr_kinase_rcpt_3_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2322 UniProtKB/Swiss-Prot
NCBI Gene 2322 ENTREZGENE
OMIM 136351 OMIM
PANTHER PTHR24416:SF356 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYROSINE-PROTEIN KINASE RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00047 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28181 PharmGKB
PIRSF TyrPK_CSF1-R UniProtKB/Swiss-Prot
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot
  RECEPTOR_TYR_KIN_III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TyrKc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A4P8K7E7_HUMAN UniProtKB/TrEMBL
  A0A6G6D045_HUMAN UniProtKB/TrEMBL
  A0A6G6D048_HUMAN UniProtKB/TrEMBL
  A0A6G6D079_HUMAN UniProtKB/TrEMBL
  A0A6G6D0I3_HUMAN UniProtKB/TrEMBL
  A0AVG9 ENTREZGENE
  B7ZLT7 ENTREZGENE
  B7ZLT8 ENTREZGENE
  E7ER61_HUMAN UniProtKB/TrEMBL
  F5H0A0 ENTREZGENE
  FLT3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q13414 ENTREZGENE
UniProt Secondary A0AVG9 UniProtKB/Swiss-Prot
  B7ZLT7 UniProtKB/Swiss-Prot
  B7ZLT8 UniProtKB/Swiss-Prot
  F5H0A0 UniProtKB/Swiss-Prot
  Q13414 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-12-10 FLT3  fms related receptor tyrosine kinase 3  FLT3  fms related tyrosine kinase 3  Symbol and/or name change 5135510 APPROVED
2016-01-19 FLT3  fms related tyrosine kinase 3  FLT3  fms-related tyrosine kinase 3  Symbol and/or name change 5135510 APPROVED