FLT4 (fms related receptor tyrosine kinase 4) - Rat Genome Database

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Gene: FLT4 (fms related receptor tyrosine kinase 4) Homo sapiens
Analyze
Symbol: FLT4
Name: fms related receptor tyrosine kinase 4
RGD ID: 733488
HGNC Page HGNC
Description: Enables several functions, including protein homodimerization activity; protein phosphatase binding activity; and vascular endothelial growth factor-activated receptor activity. Involved in several processes, including positive regulation of intracellular signal transduction; positive regulation of macromolecule metabolic process; and protein phosphorylation. Acts upstream of or within vascular endothelial growth factor receptor signaling pathway. Located in cytosol; nucleoplasm; and plasma membrane. Part of receptor complex. Implicated in hereditary lymphedema IA. Biomarker of lymphangioma and systemic scleroderma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CHTD7; Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4; FLT-4; FLT41; fms related tyrosine kinase 4; fms-like tyrosine kinase 4; fms-related tyrosine kinase 4; LMPH1A; LMPHM1; PCL; primary congenital lymphedema; soluble VEGFR3 variant 1; soluble VEGFR3 variant 2; soluble VEGFR3 variant 3; tyrosine-protein kinase receptor FLT4; vascular endothelial growth factor receptor 3; VEGF receptor-3; VEGFR-3; VEGFR3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl5180,601,506 - 180,649,624 (-)EnsemblGRCh38hg38GRCh38
GRCh385180,601,506 - 180,650,298 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh375180,028,506 - 180,076,600 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365179,961,112 - 180,009,206 (-)NCBINCBI36hg18NCBI36
Build 345179,962,147 - 180,009,171NCBI
Celera5175,651,089 - 175,699,841 (-)NCBI
Cytogenetic Map5q35.3NCBI
HuRef5174,752,484 - 174,782,989 (-)NCBIHuRef
CHM1_15179,460,942 - 179,509,118 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

References

Additional References at PubMed
PMID:1310071   PMID:1319394   PMID:1327515   PMID:7675451   PMID:7692369   PMID:7898938   PMID:7970715   PMID:8386825   PMID:8662748   PMID:8700872   PMID:9012504   PMID:9345034  
PMID:9435229   PMID:9817924   PMID:9927207   PMID:10579917   PMID:10835628   PMID:10856194   PMID:11279005   PMID:11532940   PMID:11553610   PMID:11574540   PMID:11807987   PMID:11877295  
PMID:12048269   PMID:12088335   PMID:12168824   PMID:12393704   PMID:12477932   PMID:12810700   PMID:12819011   PMID:12881528   PMID:14558949   PMID:14648657   PMID:14687619   PMID:14760756  
PMID:15102829   PMID:15107801   PMID:15231748   PMID:15297417   PMID:15340161   PMID:15389531   PMID:15474514   PMID:15693535   PMID:15746084   PMID:15878864   PMID:15880525   PMID:16044920  
PMID:16076871   PMID:16116610   PMID:16335952   PMID:16375119   PMID:16452200   PMID:16525637   PMID:16530705   PMID:16624815   PMID:16755294   PMID:16959214   PMID:17044733   PMID:17088944  
PMID:17458866   PMID:17487423   PMID:17539024   PMID:17597103   PMID:17686546   PMID:17722983   PMID:17761831   PMID:17926187   PMID:17935478   PMID:17945164   PMID:17948123   PMID:18006056  
PMID:18008346   PMID:18094729   PMID:18212541   PMID:18279219   PMID:18292935   PMID:18307927   PMID:18440723   PMID:18538738   PMID:18538739   PMID:18561194   PMID:18564920   PMID:18593464  
PMID:18594512   PMID:18642643   PMID:18719607   PMID:18829111   PMID:18973153   PMID:19002718   PMID:19039941   PMID:19066962   PMID:19068081   PMID:19099632   PMID:19151999   PMID:19240177  
PMID:19289394   PMID:19301310   PMID:19394045   PMID:19556880   PMID:19628565   PMID:19636022   PMID:19701853   PMID:19706680   PMID:19779139   PMID:19787226   PMID:19813623   PMID:19900702  
PMID:19901262   PMID:19913121   PMID:19924384   PMID:19940551   PMID:19953087   PMID:20098747   PMID:20182906   PMID:20223440   PMID:20224550   PMID:20237496   PMID:20301417   PMID:20431062  
PMID:20452482   PMID:20555004   PMID:20606037   PMID:20628086   PMID:20673868   PMID:20826270   PMID:20949568   PMID:21130043   PMID:21163065   PMID:21179485   PMID:21269982   PMID:21635552  
PMID:21680174   PMID:21751212   PMID:21805024   PMID:21839498   PMID:21873635   PMID:21909098   PMID:21912471   PMID:21972089   PMID:22016416   PMID:22179834   PMID:22223733   PMID:22326635  
PMID:22366442   PMID:22404826   PMID:22502683   PMID:22512651   PMID:22542663   PMID:22745786   PMID:22797697   PMID:22819208   PMID:22844119   PMID:22910845   PMID:22939624   PMID:22946664  
PMID:22961441   PMID:22965194   PMID:23038639   PMID:23059885   PMID:23059888   PMID:23074044   PMID:23336661   PMID:23382219   PMID:23404187   PMID:23490417   PMID:23552426   PMID:23580180  
PMID:23591595   PMID:23614535   PMID:23737988   PMID:23803010   PMID:23878260   PMID:23939705   PMID:24040410   PMID:24085575   PMID:24184958   PMID:24341227   PMID:24398987   PMID:24508126  
PMID:24650367   PMID:24710631   PMID:24713547   PMID:24754736   PMID:24845798   PMID:24858271   PMID:24982366   PMID:25109169   PMID:25229256   PMID:25281926   PMID:25314967   PMID:25329517  
PMID:25340839   PMID:25399804   PMID:25524775   PMID:25543087   PMID:25605009   PMID:25643397   PMID:25667475   PMID:25864386   PMID:25891418   PMID:25896638   PMID:25909285   PMID:26091405  
PMID:26091406   PMID:26121315   PMID:26186194   PMID:26394830   PMID:26476536   PMID:26543080   PMID:26706909   PMID:26714373   PMID:26735859   PMID:27066737   PMID:27199372   PMID:27527412  
PMID:27666723   PMID:27837630   PMID:27991863   PMID:28065597   PMID:28163024   PMID:28356442   PMID:28447586   PMID:28508400   PMID:28514442   PMID:28680264   PMID:28718364   PMID:28791841  
PMID:28939099   PMID:28991257   PMID:29122006   PMID:29513927   PMID:29557990   PMID:29615616   PMID:29649427   PMID:29777777   PMID:29787601   PMID:29896974   PMID:29908552   PMID:30123080  
PMID:30169892   PMID:30232381   PMID:30431105   PMID:30456868   PMID:30483911   PMID:30518533   PMID:30586762   PMID:30863410   PMID:30898150   PMID:31013538   PMID:31239267   PMID:31878999  
PMID:32160452   PMID:32382040   PMID:32544090   PMID:32616416   PMID:32618346   PMID:33191789   PMID:33446503  


Genomics

Comparative Map Data
FLT4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl5180,601,506 - 180,649,624 (-)EnsemblGRCh38hg38GRCh38
GRCh385180,601,506 - 180,650,298 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh375180,028,506 - 180,076,600 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365179,961,112 - 180,009,206 (-)NCBINCBI36hg18NCBI36
Build 345179,962,147 - 180,009,171NCBI
Celera5175,651,089 - 175,699,841 (-)NCBI
Cytogenetic Map5q35.3NCBI
HuRef5174,752,484 - 174,782,989 (-)NCBIHuRef
CHM1_15179,460,942 - 179,509,118 (-)NCBICHM1_1
Flt4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391149,500,506 - 49,543,566 (+)NCBIGRCm39mm39
GRCm39 Ensembl1149,500,090 - 49,543,566 (+)Ensembl
GRCm381149,609,679 - 49,652,739 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1149,609,263 - 49,652,739 (+)EnsemblGRCm38mm10GRCm38
MGSCv371149,423,181 - 49,466,241 (+)NCBIGRCm37mm9NCBIm37
MGSCv361149,453,150 - 49,495,652 (+)NCBImm8
Celera1154,171,357 - 54,214,402 (+)NCBICelera
Cytogenetic Map11B1.2NCBI
cM Map1129.69NCBI
Flt4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21033,913,725 - 33,954,770 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1033,913,608 - 33,954,770 (+)Ensembl
Rnor_6.01035,078,782 - 35,120,296 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1035,078,726 - 35,121,599 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01034,850,707 - 34,892,141 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41035,071,002 - 35,112,006 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11035,072,050 - 35,113,055NCBI
Celera1033,270,535 - 33,311,432 (+)NCBICelera
Cytogenetic Map10q21NCBI
Flt4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955408107,056 - 140,056 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540898,995 - 137,922 (+)NCBIChiLan1.0ChiLan1.0
FLT4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.15183,114,166 - 183,148,518 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5183,115,856 - 183,149,006 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v05175,804,728 - 175,852,703 (-)NCBIMhudiblu_PPA_v0panPan3
FLT4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1111,145,643 - 1,184,097 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl111,145,585 - 1,185,165 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha111,205,492 - 1,245,028 (+)NCBI
ROS_Cfam_1.0111,114,649 - 1,154,193 (+)NCBI
UMICH_Zoey_3.1111,067,618 - 1,107,139 (+)NCBI
UNSW_CanFamBas_1.0111,165,705 - 1,205,208 (+)NCBI
UU_Cfam_GSD_1.0111,405,676 - 1,445,228 (+)NCBI
Flt4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213119,026,753 - 119,071,689 (+)NCBI
SpeTri2.0NW_004936739240,572 - 281,925 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FLT4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl278,076,080 - 78,115,137 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1278,076,008 - 78,115,137 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2279,479,951 - 79,504,057 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FLT4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12382,328,257 - 82,373,785 (-)NCBI
ChlSab1.1 Ensembl2382,328,258 - 82,357,044 (-)Ensembl
Vero_WHO_p1.0NW_02366607513,749,531 - 13,795,003 (-)NCBI
Flt4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473343,203,311 - 43,238,664 (-)NCBI

Position Markers
RH80182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375180,028,507 - 180,028,714UniSTSGRCh37
Build 365179,961,113 - 179,961,320RGDNCBI36
Celera5175,651,090 - 175,651,297RGD
Cytogenetic Map5q35.3UniSTS
HuRef5174,752,485 - 174,752,692UniSTS
RH94055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375180,028,622 - 180,028,787UniSTSGRCh37
Build 365179,961,228 - 179,961,393RGDNCBI36
Celera5175,651,205 - 175,651,370RGD
Cytogenetic Map5q35.3UniSTS
HuRef5174,752,600 - 174,752,765UniSTS
GeneMap99-GB4 RH Map5652.03UniSTS
SHGC-148175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375180,050,862 - 180,051,158UniSTSGRCh37
Build 365179,983,468 - 179,983,764RGDNCBI36
Celera5175,673,989 - 175,674,285RGD
Cytogenetic Map5q35.3UniSTS
HuRef5174,775,072 - 174,775,368UniSTS
TNG Radiation Hybrid Map584527.0UniSTS
D5S2778  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q35.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4278
Count of miRNA genes:1116
Interacting mature miRNAs:1433
Transcripts:ENST00000261937, ENST00000393347, ENST00000424276, ENST00000502293, ENST00000502603, ENST00000502649, ENST00000507059, ENST00000510000, ENST00000512795, ENST00000513527, ENST00000514810
Prediction methods:Microtar, 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.


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 760 242 1112 29 372 28 1097 410 484 198 585 1277 2 1171 374 3
Low 1563 2315 585 578 646 416 3106 1760 3052 184 804 203 164 1 33 2335 2 2
Below cutoff 97 433 26 17 661 21 137 22 188 27 60 117 8 79

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001742050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC122714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY233382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY233383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA438330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS067238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS172288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS172403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS172817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS172819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB455035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ911346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU826564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU826565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU826566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC040608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC040723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ664717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ664718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ664719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM210556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM210557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM484807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM484808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM484809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM484810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM484811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM484812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM484813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM484814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM484815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM484816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM484817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM484818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM484819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM484820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP684481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP684482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP684483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP684484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP684485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP684486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP684487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S66407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U43143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X68203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X69878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261937   ⟹   ENSP00000261937
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5180,601,506 - 180,649,600 (-)Ensembl
RefSeq Acc Id: ENST00000393347   ⟹   ENSP00000377016
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5180,607,965 - 180,649,624 (-)Ensembl
RefSeq Acc Id: ENST00000424276
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5180,620,975 - 180,649,545 (-)Ensembl
RefSeq Acc Id: ENST00000502293
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5180,628,928 - 180,649,545 (-)Ensembl
RefSeq Acc Id: ENST00000502603
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5180,603,089 - 180,611,716 (-)Ensembl
RefSeq Acc Id: ENST00000502649   ⟹   ENSP00000426057
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5180,607,968 - 180,649,600 (-)Ensembl
RefSeq Acc Id: ENST00000507059
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5180,607,965 - 180,629,338 (-)Ensembl
RefSeq Acc Id: ENST00000510000
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5180,612,403 - 180,613,393 (-)Ensembl
RefSeq Acc Id: ENST00000512795   ⟹   ENSP00000421535
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5180,614,086 - 180,619,369 (-)Ensembl
RefSeq Acc Id: ENST00000513527
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5180,629,779 - 180,649,545 (-)Ensembl
RefSeq Acc Id: ENST00000514810
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5180,614,076 - 180,619,137 (-)Ensembl
RefSeq Acc Id: ENST00000619105   ⟹   ENSP00000481134
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5180,608,965 - 180,649,624 (-)Ensembl
RefSeq Acc Id: NM_001354989   ⟹   NP_001341918
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385180,607,749 - 180,649,600 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002020   ⟹   NP_002011
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385180,607,749 - 180,649,600 (-)NCBI
GRCh375180,028,506 - 180,076,624 (-)ENTREZGENE
Build 365179,967,359 - 180,009,206 (-)NCBI Archive
HuRef5174,752,484 - 174,782,989 (-)ENTREZGENE
CHM1_15179,467,195 - 179,509,118 (-)NCBI
Sequence:
RefSeq Acc Id: NM_182925   ⟹   NP_891555
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385180,601,506 - 180,649,600 (-)NCBI
GRCh375180,028,506 - 180,076,624 (-)ENTREZGENE
Build 365179,961,112 - 180,009,206 (-)NCBI Archive
HuRef5174,752,484 - 174,782,989 (-)ENTREZGENE
CHM1_15179,460,942 - 179,509,118 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011534478   ⟹   XP_011532780
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385180,601,508 - 180,645,382 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011534484   ⟹   XP_011532786
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385180,601,508 - 180,630,640 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017009263   ⟹   XP_016864752
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385180,601,508 - 180,645,387 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017009264   ⟹   XP_016864753
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385180,608,091 - 180,645,388 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017009265   ⟹   XP_016864754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385180,608,295 - 180,645,388 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017009266   ⟹   XP_016864755
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385180,607,753 - 180,645,382 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017009267   ⟹   XP_016864756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385180,608,296 - 180,645,383 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017009268   ⟹   XP_016864757
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385180,601,508 - 180,650,298 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001742050
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385180,601,508 - 180,645,389 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001341918 (Get FASTA)   NCBI Sequence Viewer  
  NP_002011 (Get FASTA)   NCBI Sequence Viewer  
  NP_891555 (Get FASTA)   NCBI Sequence Viewer  
  XP_011532780 (Get FASTA)   NCBI Sequence Viewer  
  XP_011532786 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864752 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864753 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864754 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864755 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864756 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864757 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA85215 (Get FASTA)   NCBI Sequence Viewer  
  AAB28539 (Get FASTA)   NCBI Sequence Viewer  
  AAO89504 (Get FASTA)   NCBI Sequence Viewer  
  AAO89505 (Get FASTA)   NCBI Sequence Viewer  
  ACF47600 (Get FASTA)   NCBI Sequence Viewer  
  ACF47601 (Get FASTA)   NCBI Sequence Viewer  
  ACF47602 (Get FASTA)   NCBI Sequence Viewer  
  AFN73242 (Get FASTA)   NCBI Sequence Viewer  
  AFN73243 (Get FASTA)   NCBI Sequence Viewer  
  AFN73244 (Get FASTA)   NCBI Sequence Viewer  
  AIU34641 (Get FASTA)   NCBI Sequence Viewer  
  AIU34642 (Get FASTA)   NCBI Sequence Viewer  
  AIY55328 (Get FASTA)   NCBI Sequence Viewer  
  AIY55329 (Get FASTA)   NCBI Sequence Viewer  
  AIY55330 (Get FASTA)   NCBI Sequence Viewer  
  AIY55331 (Get FASTA)   NCBI Sequence Viewer  
  AIY55332 (Get FASTA)   NCBI Sequence Viewer  
  AIY55333 (Get FASTA)   NCBI Sequence Viewer  
  AIY55334 (Get FASTA)   NCBI Sequence Viewer  
  AIY55335 (Get FASTA)   NCBI Sequence Viewer  
  AIY55336 (Get FASTA)   NCBI Sequence Viewer  
  AIY55337 (Get FASTA)   NCBI Sequence Viewer  
  AIY55338 (Get FASTA)   NCBI Sequence Viewer  
  AIY55339 (Get FASTA)   NCBI Sequence Viewer  
  AIY55340 (Get FASTA)   NCBI Sequence Viewer  
  AKN45935 (Get FASTA)   NCBI Sequence Viewer  
  AKN45936 (Get FASTA)   NCBI Sequence Viewer  
  AKN45937 (Get FASTA)   NCBI Sequence Viewer  
  AKN45938 (Get FASTA)   NCBI Sequence Viewer  
  AKN45939 (Get FASTA)   NCBI Sequence Viewer  
  AKN45940 (Get FASTA)   NCBI Sequence Viewer  
  AKN45941 (Get FASTA)   NCBI Sequence Viewer  
  BAD92874 (Get FASTA)   NCBI Sequence Viewer  
  BAF84368 (Get FASTA)   NCBI Sequence Viewer  
  CAA48290 (Get FASTA)   NCBI Sequence Viewer  
  CAA49505 (Get FASTA)   NCBI Sequence Viewer  
  CAI84582 (Get FASTA)   NCBI Sequence Viewer  
  CAJ32888 (Get FASTA)   NCBI Sequence Viewer  
  CAJ32905 (Get FASTA)   NCBI Sequence Viewer  
  CAJ33671 (Get FASTA)   NCBI Sequence Viewer  
  CAJ33685 (Get FASTA)   NCBI Sequence Viewer  
  CBH30507 (Get FASTA)   NCBI Sequence Viewer  
  CBH30547 (Get FASTA)   NCBI Sequence Viewer  
  EAW53749 (Get FASTA)   NCBI Sequence Viewer  
  EAW53750 (Get FASTA)   NCBI Sequence Viewer  
  P35916 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_891555   ⟸   NM_182925
- Peptide Label: isoform 1 precursor
- UniProtKB: P35916 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002011   ⟸   NM_002020
- Peptide Label: isoform 2 precursor
- UniProtKB: P35916 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011532780   ⟸   XM_011534478
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011532786   ⟸   XM_011534484
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016864757   ⟸   XM_017009268
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016864752   ⟸   XM_017009263
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016864755   ⟸   XM_017009266
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016864753   ⟸   XM_017009264
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016864754   ⟸   XM_017009265
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016864756   ⟸   XM_017009267
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001341918   ⟸   NM_001354989
- Peptide Label: isoform 3 precursor
- Sequence:
RefSeq Acc Id: ENSP00000426057   ⟸   ENST00000502649
RefSeq Acc Id: ENSP00000261937   ⟸   ENST00000261937
RefSeq Acc Id: ENSP00000377016   ⟸   ENST00000393347
RefSeq Acc Id: ENSP00000421535   ⟸   ENST00000512795
RefSeq Acc Id: ENSP00000481134   ⟸   ENST00000619105
Protein Domains
Ig-like   Ig-like C2-type   Protein kinase

Promoters
RGD ID:6812708
Promoter ID:HG_ACW:66904
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:FLT4.DAPR07,   FLT4.FAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 365179,978,526 - 179,979,026 (-)MPROMDB
RGD ID:6871818
Promoter ID:EPDNEW_H9074
Type:initiation region
Name:FLT4_1
Description:fms related tyrosine kinase 4
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
GRCh385180,649,594 - 180,649,654EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_182925.5(FLT4):c.2569G>A (p.Gly857Arg) single nucleotide variant Hereditary lymphedema type I [RCV000017647] Chr5:180619743 [GRCh38]
Chr5:180046743 [GRCh37]
Chr5:5q35.3
pathogenic
NM_182925.5(FLT4):c.3122G>C (p.Arg1041Pro) single nucleotide variant Hereditary lymphedema type I [RCV000017648] Chr5:180616464 [GRCh38]
Chr5:180043464 [GRCh37]
Chr5:5q35.3
pathogenic
NM_182925.5(FLT4):c.3131T>C (p.Leu1044Pro) single nucleotide variant Hereditary lymphedema type I [RCV000017649] Chr5:180616455 [GRCh38]
Chr5:180043455 [GRCh37]
Chr5:5q35.3
pathogenic
NM_182925.5(FLT4):c.3341C>T (p.Pro1114Leu) single nucleotide variant Hereditary lymphedema type I [RCV000017650] Chr5:180613101 [GRCh38]
Chr5:180040101 [GRCh37]
Chr5:5q35.3
pathogenic
NM_182925.5(FLT4):c.3104A>G (p.His1035Arg) single nucleotide variant Hereditary lymphedema type I [RCV000017651] Chr5:180616482 [GRCh38]
Chr5:180043482 [GRCh37]
Chr5:5q35.3
pathogenic
NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser) single nucleotide variant Carcinoma of colon [RCV000987646]|Hemangioma, capillary infantile [RCV000017652]|not provided [RCV000860875]|not specified [RCV000249222] Chr5:180618911 [GRCh38]
Chr5:180045911 [GRCh37]
Chr5:5q35.3
pathogenic|benign|uncertain significance|other
NM_182925.5(FLT4):c.2632G>A (p.Val878Met) single nucleotide variant Hereditary lymphedema type I [RCV000017653] Chr5:180619680 [GRCh38]
Chr5:180046680 [GRCh37]
Chr5:5q35.3
pathogenic
NM_182925.5(FLT4):c.3257T>C (p.Ile1086Thr) single nucleotide variant Hereditary lymphedema type I [RCV000017654] Chr5:180614142 [GRCh38]
Chr5:180041142 [GRCh37]
Chr5:5q35.3
pathogenic
NM_182925.5(FLT4):c.3316G>A (p.Glu1106Lys) single nucleotide variant Hereditary lymphedema type I [RCV000017655] Chr5:180614083 [GRCh38]
Chr5:180041083 [GRCh37]
Chr5:5q35.3
pathogenic
NM_182925.5(FLT4):c.3320TCT[1] (p.Phe1108del) microsatellite Hereditary lymphedema type I [RCV000017656] Chr5:180614074..180614076 [GRCh38]
Chr5:180041074..180041076 [GRCh37]
Chr5:5q35.3
pathogenic
NM_182925.5(FLT4):c.2563G>A (p.Ala855Thr) single nucleotide variant Hereditary lymphedema type I [RCV000017657] Chr5:180619749 [GRCh38]
Chr5:180046749 [GRCh37]
Chr5:5q35.3
pathogenic
NM_182925.5(FLT4):c.475C>G (p.Leu159Val) single nucleotide variant not specified [RCV001290594] Chr5:180630263 [GRCh38]
Chr5:180057263 [GRCh37]
Chr5:5q35.3
likely benign
GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3 copy number gain See cases [RCV000051205] Chr5:178529878..181269805 [GRCh38]
Chr5:177956879..180696806 [GRCh37]
Chr5:177889485..180629412 [NCBI36]
Chr5:5q35.3
uncertain significance
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3
pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] Chr5:160029980..181269805 [GRCh38]
Chr5:159456987..180696806 [GRCh37]
Chr5:159389565..180629412 [NCBI36]
Chr5:5q33.3-35.3
pathogenic
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 copy number gain See cases [RCV000051866] Chr5:168689326..181269946 [GRCh38]
Chr5:168116331..180696947 [GRCh37]
Chr5:168048909..180629553 [NCBI36]
Chr5:5q34-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3 copy number gain See cases [RCV000051868] Chr5:175889986..180793986 [GRCh38]
Chr5:175316989..180220986 [GRCh37]
Chr5:175249595..180153592 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
NM_182925.4(FLT4):c.393C>T (p.Phe131=) single nucleotide variant Malignant melanoma [RCV000066881] Chr5:180630562 [GRCh38]
Chr5:180057562 [GRCh37]
Chr5:179990168 [NCBI36]
Chr5:5q35.3
not provided
NM_182925.4(FLT4):c.1929C>T (p.Val643=) single nucleotide variant Malignant melanoma [RCV000061227] Chr5:180621633 [GRCh38]
Chr5:180048633 [GRCh37]
Chr5:179981239 [NCBI36]
Chr5:5q35.3
not provided
NM_182925.5(FLT4):c.1581C>T (p.Asn527=) single nucleotide variant none provided [RCV001285917] Chr5:180622807 [GRCh38]
Chr5:180049807 [GRCh37]
Chr5:5q35.3
likely benign
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 copy number gain See cases [RCV000133847] Chr5:156825512..181269805 [GRCh38]
Chr5:156252523..180696806 [GRCh37]
Chr5:156185101..180629412 [NCBI36]
Chr5:5q33.3-35.3
pathogenic
GRCh38/hg38 5q35.3(chr5:179669736-180897169)x1 copy number loss See cases [RCV000135285] Chr5:179669736..180897169 [GRCh38]
Chr5:179096737..180324169 [GRCh37]
Chr5:179029343..180256775 [NCBI36]
Chr5:5q35.3
likely pathogenic
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 copy number gain See cases [RCV000135546] Chr5:164386701..181269805 [GRCh38]
Chr5:163813707..180696806 [GRCh37]
Chr5:163746285..180629412 [NCBI36]
Chr5:5q34-35.3
pathogenic
GRCh38/hg38 5q35.3(chr5:180581319-180846638)x3 copy number gain See cases [RCV000135917] Chr5:180581319..180846638 [GRCh38]
Chr5:180008319..180273638 [GRCh37]
Chr5:179940925..180206244 [NCBI36]
Chr5:5q35.3
benign
GRCh38/hg38 5q35.3(chr5:180636182-181269805)x3 copy number gain See cases [RCV000136903] Chr5:180636182..181269805 [GRCh38]
Chr5:180063182..180696806 [GRCh37]
Chr5:179995788..180629412 [NCBI36]
Chr5:5q35.3
uncertain significance
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 copy number gain See cases [RCV000141249] Chr5:169334755..181285301 [GRCh38]
Chr5:168761759..180712302 [GRCh37]
Chr5:168694337..180644908 [NCBI36]
Chr5:5q35.1-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1 copy number loss See cases [RCV000141987] Chr5:175536771..181292788 [GRCh38]
Chr5:174963774..180719789 [GRCh37]
Chr5:174896380..180652395 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3 copy number gain See cases [RCV000142298] Chr5:178235909..181292788 [GRCh38]
Chr5:177662910..180719789 [GRCh37]
Chr5:177595516..180652395 [NCBI36]
Chr5:5q35.3
likely pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1 copy number loss See cases [RCV000142648] Chr5:176700128..181269805 [GRCh38]
Chr5:176127129..180696806 [GRCh37]
Chr5:176059735..180629412 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1 copy number loss See cases [RCV000167565] Chr5:174397487..180686444 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_182925.5(FLT4):c.2542+20del deletion Carcinoma of colon [RCV000186530] Chr5:180620153 [GRCh38]
Chr5:180047153 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.2542+18del deletion Carcinoma of colon [RCV000186531] Chr5:180620155 [GRCh38]
Chr5:180047155 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.2542+12A>G single nucleotide variant Carcinoma of colon [RCV000186532] Chr5:180620161 [GRCh38]
Chr5:180047161 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.2519del (p.Phe840fs) deletion Carcinoma of colon [RCV000186533] Chr5:180620196 [GRCh38]
Chr5:180047196 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.2507G>A (p.Ser836Asn) single nucleotide variant Carcinoma of colon [RCV000186534] Chr5:180620208 [GRCh38]
Chr5:180047208 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.2502T>A (p.Asp834Glu) single nucleotide variant Carcinoma of colon [RCV000186535] Chr5:180620213 [GRCh38]
Chr5:180047213 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.2498A>C (p.Tyr833Ser) single nucleotide variant Carcinoma of colon [RCV000186536] Chr5:180620217 [GRCh38]
Chr5:180047217 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.2496C>G (p.Ser832=) single nucleotide variant Carcinoma of colon [RCV000186537] Chr5:180620219 [GRCh38]
Chr5:180047219 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.2470C>A (p.Leu824Met) single nucleotide variant Carcinoma of colon [RCV000186538] Chr5:180620245 [GRCh38]
Chr5:180047245 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.2433C>A (p.Gly811=) single nucleotide variant Carcinoma of colon [RCV000186539] Chr5:180620282 [GRCh38]
Chr5:180047282 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.2414A>C (p.His805Pro) single nucleotide variant Carcinoma of colon [RCV000186540] Chr5:180620301 [GRCh38]
Chr5:180047301 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.2407-6C>G single nucleotide variant Carcinoma of colon [RCV000186541] Chr5:180620314 [GRCh38]
Chr5:180047314 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.2407-7C>T single nucleotide variant Carcinoma of colon [RCV000186542] Chr5:180620315 [GRCh38]
Chr5:180047315 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.2647+31del deletion Carcinoma of colon [RCV000186543] Chr5:180619634 [GRCh38]
Chr5:180046634 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.3076del (p.Glu1026fs) deletion Carcinoma of colon [RCV000186544] Chr5:180616920 [GRCh38]
Chr5:180043920 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.3072del (p.Met1025fs) deletion Carcinoma of colon [RCV000186545] Chr5:180616924 [GRCh38]
Chr5:180043924 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.3065C>T (p.Ala1022Val) single nucleotide variant Carcinoma of colon [RCV000186546] Chr5:180616931 [GRCh38]
Chr5:180043931 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.3064del (p.Ala1022fs) deletion Carcinoma of colon [RCV000186547] Chr5:180616932 [GRCh38]
Chr5:180043932 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.3056del (p.Phe1019fs) deletion Carcinoma of colon [RCV000186548] Chr5:180616940 [GRCh38]
Chr5:180043940 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.3002-9A>C single nucleotide variant Carcinoma of colon [RCV000186549] Chr5:180617003 [GRCh38]
Chr5:180044003 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.3219+37G>C single nucleotide variant not specified [RCV000246110] Chr5:180616330 [GRCh38]
Chr5:180043330 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.1658-17T>G single nucleotide variant not specified [RCV000250918] Chr5:180621921 [GRCh38]
Chr5:180048921 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.507G>T (p.Leu169=) single nucleotide variant not specified [RCV000253297] Chr5:180630231 [GRCh38]
Chr5:180057231 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.633A>G (p.Gly211=) single nucleotide variant none provided [RCV001287093]|not specified [RCV000253389] Chr5:180629986 [GRCh38]
Chr5:180056986 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.1308G>A (p.Ser436=) single nucleotide variant not specified [RCV000243736] Chr5:180625982 [GRCh38]
Chr5:180052982 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.59-24C>T single nucleotide variant not specified [RCV000248601] Chr5:180631802 [GRCh38]
Chr5:180058802 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.1258+14G>A single nucleotide variant not specified [RCV000248713] Chr5:180626097 [GRCh38]
Chr5:180053097 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.1580A>G (p.Asn527Ser) single nucleotide variant none provided [RCV001285509]|not provided [RCV000860836]|not specified [RCV000246399] Chr5:180622808 [GRCh38]
Chr5:180049808 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.1103+33A>C single nucleotide variant not specified [RCV000251343] Chr5:180628849 [GRCh38]
Chr5:180055849 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.1258+21C>T single nucleotide variant not specified [RCV000253671] Chr5:180626090 [GRCh38]
Chr5:180053090 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.2168-49G>A single nucleotide variant not specified [RCV000241557] Chr5:180621056 [GRCh38]
Chr5:180048056 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.3002-18C>A single nucleotide variant not specified [RCV000244145] Chr5:180617012 [GRCh38]
Chr5:180044012 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.2168-7C>G single nucleotide variant not specified [RCV000246552] Chr5:180621014 [GRCh38]
Chr5:180048014 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.677-28G>A single nucleotide variant not specified [RCV000253863] Chr5:180629863 [GRCh38]
Chr5:180056863 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.3437G>A (p.Arg1146His) single nucleotide variant not specified [RCV000241743] Chr5:180612606 [GRCh38]
Chr5:180039606 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.2761+44G>A single nucleotide variant not specified [RCV000244254] Chr5:180619209 [GRCh38]
Chr5:180046209 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.1103+20A>G single nucleotide variant not specified [RCV000246787] Chr5:180628862 [GRCh38]
Chr5:180055862 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.1344C>T (p.Tyr448=) single nucleotide variant not specified [RCV000249097] Chr5:180625946 [GRCh38]
Chr5:180052946 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.1421+19_1421+37del deletion not specified [RCV000254077] Chr5:180625832..180625850 [GRCh38]
Chr5:180052832..180052850 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.2543-14C>T single nucleotide variant not specified [RCV000246864] Chr5:180619783 [GRCh38]
Chr5:180046783 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.401-19G>C single nucleotide variant not specified [RCV000249276] Chr5:180630356 [GRCh38]
Chr5:180057356 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.3908G>C (p.Gly1303Ala) single nucleotide variant not specified [RCV000242040] Chr5:180603376 [GRCh38]
Chr5:180030376 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.3220-10G>T single nucleotide variant not specified [RCV000249447] Chr5:180614189 [GRCh38]
Chr5:180041189 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.3147C>T (p.Asp1049=) single nucleotide variant none provided [RCV001289809]|not provided [RCV000864835]|not specified [RCV000249517] Chr5:180616439 [GRCh38]
Chr5:180043439 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.2670C>G (p.His890Gln) single nucleotide variant not specified [RCV000251871] Chr5:180619344 [GRCh38]
Chr5:180046344 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.2299+13G>C single nucleotide variant not specified [RCV000251908] Chr5:180620863 [GRCh38]
Chr5:180047863 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.1480A>G (p.Thr494Ala) single nucleotide variant not specified [RCV000254379] Chr5:180624003 [GRCh38]
Chr5:180051003 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.234G>A (p.Thr78=) single nucleotide variant not provided [RCV000875661]|not specified [RCV000242263] Chr5:180630721 [GRCh38]
Chr5:180057721 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_182925.5(FLT4):c.4005C>T (p.Ser1335=) single nucleotide variant not specified [RCV000244731] Chr5:180603279 [GRCh38]
Chr5:180030279 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.3001+31T>G single nucleotide variant not specified [RCV000252159] Chr5:180618739 [GRCh38]
Chr5:180045739 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.3198C>T (p.Pro1066=) single nucleotide variant not specified [RCV000254508] Chr5:180616388 [GRCh38]
Chr5:180043388 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.3971G>C (p.Arg1324Pro) single nucleotide variant not specified [RCV000242364] Chr5:180603313 [GRCh38]
Chr5:180030313 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.3971G>T (p.Arg1324Leu) single nucleotide variant not provided [RCV001539446]|not specified [RCV000247350] Chr5:180603313 [GRCh38]
Chr5:180030313 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.3220-29A>G single nucleotide variant not specified [RCV000249778] Chr5:180614208 [GRCh38]
Chr5:180041208 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.1921C>T (p.Pro641Ser) single nucleotide variant Carcinoma of colon [RCV000987648]|not provided [RCV000428505]|not specified [RCV000245029] Chr5:180621641 [GRCh38]
Chr5:180048641 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_182925.5(FLT4):c.58+28C>G single nucleotide variant not specified [RCV000245088] Chr5:180649460 [GRCh38]
Chr5:180076460 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.3959G>A (p.Arg1320Gln) single nucleotide variant none provided [RCV001287096]|not specified [RCV000247454] Chr5:180603325 [GRCh38]
Chr5:180030325 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.2168-28A>G single nucleotide variant not provided [RCV001536769]|not specified [RCV000249989] Chr5:180621035 [GRCh38]
Chr5:180048035 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.3962G>A (p.Arg1321Gln) single nucleotide variant none provided [RCV001286763]|not specified [RCV000252413] Chr5:180603322 [GRCh38]
Chr5:180030322 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_182925.5(FLT4):c.3220-21A>C single nucleotide variant not specified [RCV000245210] Chr5:180614200 [GRCh38]
Chr5:180041200 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.1049A>T (p.Glu350Val) single nucleotide variant not provided [RCV000878728]|not specified [RCV000247678] Chr5:180628936 [GRCh38]
Chr5:180055936 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.401-34G>A single nucleotide variant not specified [RCV000252629] Chr5:180630371 [GRCh38]
Chr5:180057371 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.1103+18C>T single nucleotide variant not specified [RCV000252637] Chr5:180628864 [GRCh38]
Chr5:180055864 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.1815G>A (p.Pro605=) single nucleotide variant not specified [RCV000242865] Chr5:180621747 [GRCh38]
Chr5:180048747 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.677-15T>C single nucleotide variant not specified [RCV000250333] Chr5:180629850 [GRCh38]
Chr5:180056850 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.400+17G>A single nucleotide variant not specified [RCV000252718] Chr5:180630538 [GRCh38]
Chr5:180057538 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.3537+21G>A single nucleotide variant not specified [RCV000245526] Chr5:180612485 [GRCh38]
Chr5:180039485 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.676+18C>T single nucleotide variant not specified [RCV000245607] Chr5:180629925 [GRCh38]
Chr5:180056925 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.3807+34G>C single nucleotide variant not specified [RCV000250477] Chr5:180609871 [GRCh38]
Chr5:180036871 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.816+18G>C single nucleotide variant not specified [RCV000245679] Chr5:180629678 [GRCh38]
Chr5:180056678 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.1421+37C>T single nucleotide variant not specified [RCV000245687] Chr5:180625832 [GRCh38]
Chr5:180052832 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.489C>T (p.Pro163=) single nucleotide variant not specified [RCV000248112] Chr5:180630249 [GRCh38]
Chr5:180057249 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.1422-10G>A single nucleotide variant not provided [RCV000861326]|not specified [RCV000250613] Chr5:180624071 [GRCh38]
Chr5:180051071 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_182925.5(FLT4):c.1104-42T>C single nucleotide variant not specified [RCV000243353] Chr5:180626307 [GRCh38]
Chr5:180053307 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.445A>G (p.Asn149Asp) single nucleotide variant not specified [RCV000243363] Chr5:180630293 [GRCh38]
Chr5:180057293 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.1103+20A>C single nucleotide variant not specified [RCV000243464] Chr5:180628862 [GRCh38]
Chr5:180055862 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.986-45C>T single nucleotide variant not specified [RCV000250838] Chr5:180629044 [GRCh38]
Chr5:180056044 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.3220-11T>C single nucleotide variant not specified [RCV000253220] Chr5:180614190 [GRCh38]
Chr5:180041190 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.1079C>T (p.Ala360Val) single nucleotide variant not specified [RCV000414155] Chr5:180628906 [GRCh38]
Chr5:180055906 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.3(chr5:179309535-180719789)x3 copy number gain See cases [RCV000447009] Chr5:179309535..180719789 [GRCh37]
Chr5:5q35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176274007-180719789)x1 copy number loss See cases [RCV000447018] Chr5:176274007..180719789 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q35.3(chr5:178228725-180678091)x3 copy number gain See cases [RCV000448488] Chr5:178228725..180678091 [GRCh37]
Chr5:5q35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174427052-180719789)x1 copy number loss See cases [RCV000448611] Chr5:174427052..180719789 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175601473-180100378)x1 copy number loss See cases [RCV000448793] Chr5:175601473..180100378 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
GRCh37/hg19 5q35.3(chr5:178849756-180719789)x3 copy number gain See cases [RCV000448073] Chr5:178849756..180719789 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:171396359-180719789)x3 copy number gain See cases [RCV000448458] Chr5:171396359..180719789 [GRCh37]
Chr5:5q35.1-35.3
pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3 copy number gain See cases [RCV000512068] Chr5:172031248..180719789 [GRCh37]
Chr5:5q35.1-35.3
pathogenic
NM_182925.5(FLT4):c.392T>C (p.Phe131Ser) single nucleotide variant Regorafenib response [RCV000509019] Chr5:180630563 [GRCh38]
Chr5:180057563 [GRCh37]
Chr5:5q35.3
drug response
GRCh37/hg19 5q35.3(chr5:180035579-180238080)x1 copy number loss See cases [RCV000511961] Chr5:180035579..180238080 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1 copy number loss See cases [RCV000510785] Chr5:175570677..180719789 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
Single allele duplication not provided [RCV000768450] Chr5:175843728..180703728 [GRCh37]
Chr5:5q35.2-35.3
likely pathogenic
GRCh37/hg19 5q35.3(chr5:177535168-180719789)x3 copy number gain See cases [RCV000512203] Chr5:177535168..180719789 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.3391G>A (p.Gly1131Ser) single nucleotide variant Inborn genetic diseases [RCV000622754] Chr5:180613051 [GRCh38]
Chr5:180040051 [GRCh37]
Chr5:5q35.3
likely pathogenic
GRCh37/hg19 5q35.3(chr5:179240909-180035580)x3 copy number gain not provided [RCV000682625] Chr5:179240909..180035580 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.3(chr5:177114088-180719789)x1 copy number loss not provided [RCV000682620] Chr5:177114088..180719789 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.1622dup (p.Gln542fs) duplication Congenital heart defects, multiple types, 7 [RCV001003430] Chr5:180622765..180622766 [GRCh38]
Chr5:180049765..180049766 [GRCh37]
Chr5:5q35.3
pathogenic
NM_182925.5(FLT4):c.3108A>T (p.Arg1036Ser) single nucleotide variant not specified [RCV001002314] Chr5:180616478 [GRCh38]
Chr5:180043478 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 copy number gain not provided [RCV000745284] Chr5:155344802..180693344 [GRCh37]
Chr5:5q33.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174832617-180693344)x3 copy number gain not provided [RCV000745336] Chr5:174832617..180693344 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.3(chr5:180032263-180057231)x1 copy number loss not provided [RCV000745381] Chr5:180032263..180057231 [GRCh37]
Chr5:5q35.3
benign
GRCh37/hg19 5q35.3(chr5:180033292-180058963)x1 copy number loss not provided [RCV000745382] Chr5:180033292..180058963 [GRCh37]
Chr5:5q35.3
benign
GRCh37/hg19 5q35.3(chr5:180040918-180045445)x1 copy number loss not provided [RCV000745383] Chr5:180040918..180045445 [GRCh37]
Chr5:5q35.3
benign
GRCh37/hg19 5q35.3(chr5:180040918-180045911)x1 copy number loss not provided [RCV000745384] Chr5:180040918..180045911 [GRCh37]
Chr5:5q35.3
benign
GRCh37/hg19 5q35.3(chr5:180042548-180045911)x1 copy number loss not provided [RCV000745385] Chr5:180042548..180045911 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.2648-4C>T single nucleotide variant not provided [RCV000938302] Chr5:180619370 [GRCh38]
Chr5:180046370 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.58+248T>C single nucleotide variant not provided [RCV001535211] Chr5:180649240 [GRCh38]
Chr5:180076240 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.3886G>A (p.Gly1296Ser) single nucleotide variant not provided [RCV000860883] Chr5:180608975 [GRCh38]
Chr5:180035975 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.474T>A (p.Cys158Ter) single nucleotide variant not provided [RCV001574757] Chr5:180630264 [GRCh38]
Chr5:180057264 [GRCh37]
Chr5:5q35.3
likely pathogenic
FLT4, EX25-29DEL deletion Congenital heart defects, multiple types, 7 [RCV001003428] Chr5:5q35.3 pathogenic
NM_182925.5(FLT4):c.3574C>T (p.Gln1192Ter) single nucleotide variant Congenital heart defects, multiple types, 7 [RCV001003429] Chr5:180611443 [GRCh38]
Chr5:180038443 [GRCh37]
Chr5:5q35.3
pathogenic
NM_182925.5(FLT4):c.166C>A (p.Pro56Thr) single nucleotide variant not provided [RCV001570431] Chr5:180630789 [GRCh38]
Chr5:180057789 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.387C>T (p.Tyr129=) single nucleotide variant not provided [RCV000900326] Chr5:180630568 [GRCh38]
Chr5:180057568 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.618C>T (p.Cys206=) single nucleotide variant not provided [RCV000943796] Chr5:180630001 [GRCh38]
Chr5:180057001 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.309C>G (p.Ala103=) single nucleotide variant not provided [RCV000944045] Chr5:180630646 [GRCh38]
Chr5:180057646 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.2631C>T (p.Ala877=) single nucleotide variant not provided [RCV000923882] Chr5:180619681 [GRCh38]
Chr5:180046681 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.3460G>A (p.Gly1154Arg) single nucleotide variant not provided [RCV000871008] Chr5:180612583 [GRCh38]
Chr5:180039583 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.2951G>A (p.Arg984Gln) single nucleotide variant not provided [RCV000865407] Chr5:180618820 [GRCh38]
Chr5:180045820 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.171C>T (p.Leu57=) single nucleotide variant not provided [RCV000982455] Chr5:180630784 [GRCh38]
Chr5:180057784 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.2104G>T (p.Ala702Ser) single nucleotide variant Carcinoma of colon [RCV000987647] Chr5:180621169 [GRCh38]
Chr5:180048169 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937) copy number gain not provided [RCV000767711] Chr5:174990352..180690937 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_182925.5(FLT4):c.1473G>A (p.Ala491=) single nucleotide variant not provided [RCV000932866] Chr5:180624010 [GRCh38]
Chr5:180051010 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.2172C>G (p.Val724=) single nucleotide variant not provided [RCV000861272] Chr5:180621003 [GRCh38]
Chr5:180048003 [GRCh37]
Chr5:5q35.3
benign
GRCh37/hg19 5q35.3(chr5:177776148-180687012) copy number loss not provided [RCV000767663] Chr5:177776148..180687012 [GRCh37]
Chr5:5q35.3
likely pathogenic
NM_182925.5(FLT4):c.3261C>T (p.Phe1087=) single nucleotide variant not provided [RCV000877692] Chr5:180614138 [GRCh38]
Chr5:180041138 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.1104-10C>T single nucleotide variant not provided [RCV000877403] Chr5:180626275 [GRCh38]
Chr5:180053275 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.3220-35_3220-2del deletion not provided [RCV000963444] Chr5:180614181..180614214 [GRCh38]
Chr5:180041181..180041214 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.1468A>G (p.Arg490Gly) single nucleotide variant not provided [RCV000943862] Chr5:180624015 [GRCh38]
Chr5:180051015 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.211G>A (p.Gly71Arg) single nucleotide variant not provided [RCV000872731] Chr5:180630744 [GRCh38]
Chr5:180057744 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.3867C>T (p.Ser1289=) single nucleotide variant not provided [RCV000861205] Chr5:180608994 [GRCh38]
Chr5:180035994 [GRCh37]
Chr5:5q35.3
benign
GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3 copy number gain not provided [RCV000847220] Chr5:176848982..180719789 [GRCh37]
Chr5:5q35.3
pathogenic
GRCh37/hg19 5q35.3(chr5:179479838-180695063)x3 copy number gain not provided [RCV001005751] Chr5:179479838..180695063 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.2648-8C>T single nucleotide variant not specified [RCV001001184] Chr5:180619374 [GRCh38]
Chr5:180046374 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.3410C>T (p.Pro1137Leu) single nucleotide variant Hereditary lymphedema type I [RCV001199191] Chr5:180613032 [GRCh38]
Chr5:180040032 [GRCh37]
Chr5:5q35.3
likely pathogenic
NM_182925.5(FLT4):c.244C>T (p.Arg82Ter) single nucleotide variant Congenital heart defects, multiple types, 7 [RCV001533291] Chr5:180630711 [GRCh38]
Chr5:180057711 [GRCh37]
Chr5:5q35.3
pathogenic
NM_182925.5(FLT4):c.129C>T (p.Thr43=) single nucleotide variant not provided [RCV000895998] Chr5:180631708 [GRCh38]
Chr5:180058708 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.3121C>T (p.Arg1041Trp) single nucleotide variant Hereditary lymphedema type I [RCV000853321] Chr5:180616465 [GRCh38]
Chr5:180043465 [GRCh37]
Chr5:5q35.3
likely pathogenic
NM_182925.5(FLT4):c.117C>T (p.His39=) single nucleotide variant not provided [RCV000885426] Chr5:180631720 [GRCh38]
Chr5:180058720 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.2602C>T (p.His868Tyr) single nucleotide variant not provided [RCV000893786] Chr5:180619710 [GRCh38]
Chr5:180046710 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.3681C>T (p.Ala1227=) single nucleotide variant not provided [RCV000870510] Chr5:180611336 [GRCh38]
Chr5:180038336 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.76T>G (p.Ser26Ala) single nucleotide variant not provided [RCV000871998] Chr5:180631761 [GRCh38]
Chr5:180058761 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.2407-10C>T single nucleotide variant not provided [RCV000899619] Chr5:180620318 [GRCh38]
Chr5:180047318 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.909C>T (p.His303=) single nucleotide variant not provided [RCV000933921] Chr5:180629335 [GRCh38]
Chr5:180056335 [GRCh37]
Chr5:5q35.3
likely benign
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3 copy number gain 5q35 microduplication syndrome [RCV001263227] Chr5:170805664..180719789 [GRCh37]
Chr5:5q35.1-35.3
pathogenic
NM_182925.5(FLT4):c.3391G>C (p.Gly1131Arg) single nucleotide variant not provided [RCV001579457] Chr5:180613051 [GRCh38]
Chr5:180040051 [GRCh37]
Chr5:5q35.3
pathogenic
NM_182925.5(FLT4):c.89del (p.Pro30fs) deletion Congenital heart defects, multiple types, 7 [RCV001003427] Chr5:180631748 [GRCh38]
Chr5:180058748 [GRCh37]
Chr5:5q35.3
pathogenic
NM_182925.5(FLT4):c.2407-18C>T single nucleotide variant not specified [RCV001001789] Chr5:180620326 [GRCh38]
Chr5:180047326 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.1657+206A>G single nucleotide variant not provided [RCV001536757] Chr5:180622525 [GRCh38]
Chr5:180049525 [GRCh37]
Chr5:5q35.3
benign
FLT4, TYR361TER variation Congenital heart defects, multiple types, 7 [RCV001003426] Chr5:5q35.3 pathogenic
GRCh37/hg19 5q35.3(chr5:178487249-180622216)x4 copy number gain not provided [RCV001005750] Chr5:178487249..180622216 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.3610A>G (p.Thr1204Ala) single nucleotide variant Hereditary lymphedema type I [RCV001196316] Chr5:180611407 [GRCh38]
Chr5:180038407 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.3247C>T (p.Pro1083Ser) single nucleotide variant Hereditary lymphedema type I [RCV001196028] Chr5:180614152 [GRCh38]
Chr5:180041152 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.3(chr5:180064955-180719789)x3 copy number gain not provided [RCV001258718] Chr5:180064955..180719789 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.3436C>G (p.Arg1146Gly) single nucleotide variant none provided [RCV001287476] Chr5:180612607 [GRCh38]
Chr5:180039607 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.1452A>G (p.Pro484=) single nucleotide variant none provided [RCV001289590] Chr5:180624031 [GRCh38]
Chr5:180051031 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.3821A>T (p.Asp1274Val) single nucleotide variant Hereditary lymphedema type I [RCV001331922] Chr5:180609040 [GRCh38]
Chr5:180036040 [GRCh37]
Chr5:5q35.3
likely pathogenic
NM_182925.5(FLT4):c.3894-1G>A single nucleotide variant not specified [RCV001293575] Chr5:180603391 [GRCh38]
Chr5:180030391 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_182925.5(FLT4):c.2407-104A>G single nucleotide variant not provided [RCV001536443] Chr5:180620412 [GRCh38]
Chr5:180047412 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.400+51C>T single nucleotide variant not provided [RCV001536494] Chr5:180630504 [GRCh38]
Chr5:180057504 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.521C>T (p.Ser174Leu) single nucleotide variant not provided [RCV001423369] Chr5:180630098 [GRCh38]
Chr5:180057098 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.1325C>T (p.Ala442Val) single nucleotide variant not provided [RCV001415675] Chr5:180625965 [GRCh38]
Chr5:180052965 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.1549-104del deletion not provided [RCV001533804] Chr5:180622943 [GRCh38]
Chr5:180049943 [GRCh37]
Chr5:5q35.3
benign
NM_182925.5(FLT4):c.245G>A (p.Arg82Gln) single nucleotide variant not provided [RCV001474183] Chr5:180630710 [GRCh38]
Chr5:180057710 [GRCh37]
Chr5:5q35.3
likely benign
NM_182925.5(FLT4):c.1472C>T (p.Ala491Val) single nucleotide variant not provided [RCV001477700] Chr5:180624011 [GRCh38]
Chr5:180051011 [GRCh37]
Chr5:5q35.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3767 AgrOrtholog
COSMIC FLT4 COSMIC
Ensembl Genes ENSG00000037280 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000261937 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377016 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000421535 UniProtKB/TrEMBL
  ENSP00000426057 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000481134 UniProtKB/TrEMBL
Ensembl Transcript ENST00000261937 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393347 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000502649 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000512795 UniProtKB/TrEMBL
  ENST00000619105 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000037280 GTEx
HGNC ID HGNC:3767 ENTREZGENE
Human Proteome Map FLT4 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
  Ig_I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 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, UniProtKB/TrEMBL
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_rcpt_3_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VEGFR-2_TMD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VEGFR3_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2324 UniProtKB/Swiss-Prot
NCBI Gene 2324 ENTREZGENE
OMIM 136352 OMIM
  153100 OMIM
  602089 OMIM
  618780 OMIM
PANTHER PTHR24416:SF562 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VEGFR-2_TMD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28183 PharmGKB
PRINTS TYRKINASE UniProtKB/TrEMBL
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, UniProtKB/TrEMBL
  RECEPTOR_TYR_KIN_III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TyrKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A097NUS3_HUMAN UniProtKB/TrEMBL
  A0A0A7DYA9_HUMAN UniProtKB/TrEMBL
  A0A0A7DYC7_HUMAN UniProtKB/TrEMBL
  A0A0A7DYE1_HUMAN UniProtKB/TrEMBL
  A0A0A7DZ60_HUMAN UniProtKB/TrEMBL
  A0A0A7DZ95_HUMAN UniProtKB/TrEMBL
  A0A0A7DZ98_HUMAN UniProtKB/TrEMBL
  A0A0H4A771_HUMAN UniProtKB/TrEMBL
  A0A0H4A774_HUMAN UniProtKB/TrEMBL
  A0A0H4A7R5_HUMAN UniProtKB/TrEMBL
  A0A0H4ABZ1_HUMAN UniProtKB/TrEMBL
  A0A0H4ADY2_HUMAN UniProtKB/TrEMBL
  A0A0H4AF71_HUMAN UniProtKB/TrEMBL
  B5A927_HUMAN UniProtKB/TrEMBL
  D6RFF2_HUMAN UniProtKB/TrEMBL
  E9PD35_HUMAN UniProtKB/TrEMBL
  I6YRR9_HUMAN UniProtKB/TrEMBL
  I6ZMK4_HUMAN UniProtKB/TrEMBL
  I6ZVY0_HUMAN UniProtKB/TrEMBL
  L8EBH4_HUMAN UniProtKB/TrEMBL
  P35916 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K6L4 UniProtKB/Swiss-Prot
  B5A926 UniProtKB/Swiss-Prot
  Q16067 UniProtKB/Swiss-Prot
  Q86W07 UniProtKB/Swiss-Prot
  Q86W08 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-12-10 FLT4  fms related receptor tyrosine kinase 4  FLT4  fms related tyrosine kinase 4  Symbol and/or name change 5135510 APPROVED
2016-01-19 FLT4  fms related tyrosine kinase 4    fms-related tyrosine kinase 4  Symbol and/or name change 5135510 APPROVED
2011-08-16 FLT4  fms-related tyrosine kinase 4  FLT4  fms-related tyrosine kinase 4  Symbol and/or name change 5135510 APPROVED