TCF3 (transcription factor 3) - Rat Genome Database

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Gene: TCF3 (transcription factor 3) Homo sapiens
Analyze
Symbol: TCF3
Name: transcription factor 3
RGD ID: 1351290
HGNC Page HGNC:11633
Description: Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; DNA-binding transcription factor binding activity; and protein dimerization activity. Contributes to E-box binding activity. Involved in several processes, including B cell lineage commitment; positive regulation of B cell proliferation; and regulation of DNA-templated transcription. Acts upstream of or within immunoglobulin V(D)J recombination and positive regulation of transcription by RNA polymerase II. Located in cytoplasm; euchromatin; and nucleoplasm. Part of RNA polymerase II transcription regulator complex. Implicated in agammaglobulinemia and colorectal cancer. Biomarker of colorectal cancer and prostate cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AGM8; AGM8A; AGM8B; bHLHb21; class B basic helix-loop-helix protein 21; E2A; E2A immunoglobulin enhancer-binding factor E12/E47; E47; helix-loop-helix protein HE47; immunoglobulin enhancer-binding factor E12/E47; immunoglobulin transcription factor 1; ITF1; kappa-E2-binding factor; MGC129647; MGC129648; negative vitamin D response element-binding protein; NOL1-TCF3 fusion; p75; TCF-3; transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47); transcription factor 3 variant 3; transcription factor E2-alpha; transcription factor ITF-1; VDIR; VDR interacting repressor; vitamin D receptor-interacting repressor
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: TCF3P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38191,609,292 - 1,652,615 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl191,609,291 - 1,652,615 (-)EnsemblGRCh38hg38GRCh38
GRCh37191,609,291 - 1,652,614 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36191,560,293 - 1,601,277 (-)NCBINCBI36Build 36hg18NCBI36
Build 34191,560,294 - 1,601,277NCBI
Celera191,544,148 - 1,586,451 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef191,383,232 - 1,423,075 (-)NCBIHuRef
CHM1_1191,609,123 - 1,649,881 (-)NCBICHM1_1
T2T-CHM13v2.0191,580,117 - 1,623,781 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
2-methylcholine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amphetamine  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (ISO)
carbamazepine  (EXP)
CGP 52608  (EXP)
cisplatin  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
decabromodiphenyl ether  (ISO)
diclofenac  (EXP)
dicrotophos  (EXP)
diethylstilbestrol  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
Erionite  (ISO)
ethyl methanesulfonate  (EXP)
fenvalerate  (ISO)
flavonoids  (EXP,ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
hydrogen cyanide  (ISO)
hydrogen peroxide  (EXP)
isoprenaline  (ISO)
mercury atom  (EXP)
mercury(0)  (EXP)
methyl methanesulfonate  (EXP)
N-Vinyl-2-pyrrolidone  (ISO)
ochratoxin A  (ISO)
paracetamol  (EXP)
paraquat  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
piroxicam  (EXP)
potassium cyanide  (ISO)
resveratrol  (EXP)
SB 431542  (EXP)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
thapsigargin  (ISO)
theophylline  (EXP)
topotecan  (EXP)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. E2A predicts prognosis of colorectal cancer patients and regulates cancer cell growth by targeting miR-320a. Huang A, etal., PLoS One. 2014 Jan 13;9(1):e85201. doi: 10.1371/journal.pone.0085201. eCollection 2014.
3. Human IgG antibody profiles differentiate between symptomatic patients with and without colorectal cancer. Kijanka G, etal., Gut. 2010 Jan;59(1):69-78. doi: 10.1136/gut.2009.178574.
4. Hypomethylation-associated up-regulation of TCF3 expression and recurrence in stage II and III colorectal cancer. Li C, etal., PLoS One. 2014 Nov 6;9(11):e112005. doi: 10.1371/journal.pone.0112005. eCollection 2014.
5. Increased expression of bHLH transcription factor E2A (TCF3) in prostate cancer promotes proliferation and confers resistance to doxorubicin induced apoptosis. Patel D and Chaudhary J, Biochem Biophys Res Commun. 2012 May 25;422(1):146-51. doi: 10.1016/j.bbrc.2012.04.126. Epub 2012 Apr 30.
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Targeted re-sequencing identified rs3106189 at the 5' UTR of TAPBP and rs1052918 at the 3' UTR of TCF3 to be associated with the overall survival of colorectal cancer patients. Shao J, etal., PLoS One. 2013 Aug 5;8(8):e70307. doi: 10.1371/journal.pone.0070307. Print 2013.
9. TCF7 is suppressed by the androgen receptor via microRNA-1-mediated downregulation and is involved in the development of resistance to androgen deprivation in prostate cancer. Siu MK, etal., Prostate Cancer Prostatic Dis. 2017 Jun;20(2):172-178. doi: 10.1038/pcan.2017.2. Epub 2017 Feb 21.
10. Edelfosine Promotes Apoptosis in Androgen-Deprived Prostate Tumors by Increasing ATF3 and Inhibiting Androgen Receptor Activity. Udayakumar TS, etal., Mol Cancer Ther. 2016 Jun;15(6):1353-63. doi: 10.1158/1535-7163.MCT-15-0332. Epub 2016 Mar 4.
11. Loss of ATF3 promotes hormone-induced prostate carcinogenesis and the emergence of CK5(+)CK8(+) epithelial cells. Wang Z, etal., Oncogene. 2016 Jul 7;35(27):3555-64. doi: 10.1038/onc.2015.417. Epub 2015 Nov 2.
12. PAK5-mediated E47 phosphorylation promotes epithelial-mesenchymal transition and metastasis of colon cancer. Zhu G, etal., Oncogene. 2016 Apr 14;35(15):1943-54. doi: 10.1038/onc.2015.259. Epub 2015 Jul 27.
Additional References at PubMed
PMID:1325437   PMID:1386162   PMID:1649701   PMID:1671560   PMID:1720355   PMID:1818757   PMID:1967982   PMID:1967983   PMID:2105528   PMID:2112746   PMID:2163343   PMID:2308859  
PMID:2385294   PMID:2493990   PMID:2503252   PMID:2799390   PMID:7568177   PMID:7623842   PMID:7933101   PMID:7935390   PMID:8001125   PMID:8152805   PMID:8159721   PMID:8164688  
PMID:8432525   PMID:8617811   PMID:8628307   PMID:8759016   PMID:8900141   PMID:8918463   PMID:8948587   PMID:8999959   PMID:9001211   PMID:9013644   PMID:9050988   PMID:9073453  
PMID:9184158   PMID:9199284   PMID:9209374   PMID:9214632   PMID:9235903   PMID:9242638   PMID:9409784   PMID:9418854   PMID:9507011   PMID:9525934   PMID:9582372   PMID:9584154  
PMID:9624159   PMID:9742120   PMID:10086727   PMID:10471746   PMID:10497239   PMID:10502414   PMID:10545951   PMID:10567574   PMID:10636926   PMID:10652346   PMID:10749989   PMID:10757985  
PMID:10768861   PMID:10775504   PMID:10781029   PMID:10866689   PMID:10915743   PMID:10924525   PMID:10958665   PMID:11237058   PMID:11248247   PMID:11509675   PMID:11802795   PMID:11812799  
PMID:11940670   PMID:11994467   PMID:12107263   PMID:12107413   PMID:12217327   PMID:12435739   PMID:12477932   PMID:12493738   PMID:12566462   PMID:12700034   PMID:12878195   PMID:14536079  
PMID:14576336   PMID:14592976   PMID:14627819   PMID:14752053   PMID:15030778   PMID:15044608   PMID:15057824   PMID:15070701   PMID:15138269   PMID:15242870   PMID:15280210   PMID:15280352  
PMID:15310760   PMID:15318167   PMID:15327769   PMID:15333839   PMID:15351717   PMID:15456869   PMID:15507449   PMID:15509787   PMID:15555546   PMID:15923648   PMID:16007194   PMID:16043483  
PMID:16055439   PMID:16206189   PMID:16215946   PMID:16407974   PMID:16428437   PMID:16449526   PMID:16546275   PMID:16705184   PMID:16769578   PMID:16775630   PMID:16782810   PMID:16814783  
PMID:17183364   PMID:17272506   PMID:17311319   PMID:17426122   PMID:17721549   PMID:18185522   PMID:18390709   PMID:18455790   PMID:18611861   PMID:18727914   PMID:18834332   PMID:19074834  
PMID:19125693   PMID:19274049   PMID:19299559   PMID:19308989   PMID:19321746   PMID:19322201   PMID:19323994   PMID:19362560   PMID:19497860   PMID:19801649   PMID:20022378   PMID:20211142  
PMID:20217071   PMID:20519628   PMID:20603019   PMID:20714342   PMID:20802470   PMID:21119685   PMID:21179004   PMID:21212793   PMID:21258409   PMID:21498546   PMID:21532573   PMID:21534874  
PMID:21551245   PMID:21655267   PMID:21771727   PMID:21788410   PMID:21828274   PMID:21832153   PMID:21869488   PMID:21873635   PMID:21988832   PMID:22207202   PMID:22354994   PMID:22387215  
PMID:22514271   PMID:22544934   PMID:22743623   PMID:22829926   PMID:22972921   PMID:23044487   PMID:23085504   PMID:23135478   PMID:23449499   PMID:23555842   PMID:23688269   PMID:23812588  
PMID:23851690   PMID:24216514   PMID:24369055   PMID:24578304   PMID:24596249   PMID:24920014   PMID:25116187   PMID:25416956   PMID:25466284   PMID:25499232   PMID:25551271   PMID:25615280  
PMID:25778840   PMID:25894862   PMID:26186194   PMID:26214592   PMID:26223652   PMID:26237075   PMID:26496610   PMID:26509298   PMID:26593974   PMID:26673895   PMID:26735018   PMID:26942192  
PMID:26972000   PMID:27105323   PMID:27166193   PMID:27237323   PMID:27542412   PMID:27894958   PMID:28107608   PMID:28205554   PMID:28319085   PMID:28385388   PMID:28514442   PMID:28532655  
PMID:28533407   PMID:28604457   PMID:28611215   PMID:28707666   PMID:28986522   PMID:29270752   PMID:29383478   PMID:29694893   PMID:29705861   PMID:30098214   PMID:30115631   PMID:30155889  
PMID:30520117   PMID:30593567   PMID:30804502   PMID:30894657   PMID:31234887   PMID:31391218   PMID:31575852   PMID:31696227   PMID:32098872   PMID:32276273   PMID:32296183   PMID:32449435  
PMID:32513696   PMID:32882024   PMID:33011533   PMID:33060197   PMID:33144398   PMID:33664368   PMID:33859041   PMID:33905048   PMID:33961781   PMID:34037532   PMID:34145034   PMID:34260910  
PMID:34278464   PMID:34406703   PMID:34488017   PMID:34624079   PMID:34658308   PMID:35013218   PMID:35033448   PMID:35140242   PMID:35198878   PMID:35239510   PMID:35440621   PMID:35446002  
PMID:35587604   PMID:35701409   PMID:35831314  


Genomics

Comparative Map Data
TCF3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38191,609,292 - 1,652,615 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl191,609,291 - 1,652,615 (-)EnsemblGRCh38hg38GRCh38
GRCh37191,609,291 - 1,652,614 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36191,560,293 - 1,601,277 (-)NCBINCBI36Build 36hg18NCBI36
Build 34191,560,294 - 1,601,277NCBI
Celera191,544,148 - 1,586,451 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef191,383,232 - 1,423,075 (-)NCBIHuRef
CHM1_1191,609,123 - 1,649,881 (-)NCBICHM1_1
T2T-CHM13v2.0191,580,117 - 1,623,781 (-)NCBIT2T-CHM13v2.0
Tcf3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391080,245,375 - 80,269,814 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1080,245,348 - 80,269,481 (-)EnsemblGRCm39 Ensembl
GRCm381080,409,541 - 80,433,976 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1080,409,514 - 80,433,647 (-)EnsemblGRCm38mm10GRCm38
MGSCv371079,871,910 - 79,896,398 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361079,812,723 - 79,836,736 (-)NCBIMGSCv36mm8
Celera1081,426,533 - 81,451,021 (-)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Tcf3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.279,280,571 - 9,302,315 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl79,280,571 - 9,302,314 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx712,157,100 - 12,178,811 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0714,032,424 - 14,054,151 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0711,900,016 - 11,921,838 (+)NCBIRnor_WKY
Rnor_6.0712,146,642 - 12,168,400 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl712,144,162 - 12,168,410 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0712,316,323 - 12,338,455 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4710,791,311 - 10,813,613 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1710,791,310 - 10,813,165 (+)NCBI
Celera77,461,200 - 7,481,028 (+)NCBICelera
Cytogenetic Map7q11NCBI
Tcf3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554956,337,870 - 6,367,487 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554956,337,311 - 6,365,193 (+)NCBIChiLan1.0ChiLan1.0
TCF3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1191,582,297 - 1,622,025 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl191,582,297 - 1,622,025 (-)Ensemblpanpan1.1panPan2
TCF3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12057,255,091 - 57,284,223 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2057,254,384 - 57,283,981 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2057,045,568 - 57,076,063 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02057,984,288 - 58,014,495 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2057,985,608 - 58,014,477 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12057,041,346 - 57,071,536 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02057,520,665 - 57,550,910 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02057,722,526 - 57,752,778 (+)NCBIUU_Cfam_GSD_1.0
Tcf3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118216,921,770 - 216,949,966 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936588884,817 - 913,052 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TCF3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl276,859,089 - 76,898,351 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1276,859,079 - 76,906,275 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2278,181,360 - 78,220,554 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TCF3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.161,393,147 - 1,440,515 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl61,393,107 - 1,440,479 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660817,409,480 - 7,459,296 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tcf3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248287,090,605 - 7,121,428 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248287,090,562 - 7,119,970 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
STS-M65214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,611,244 - 1,611,477UniSTSGRCh37
Build 36191,562,244 - 1,562,477RGDNCBI36
Celera191,546,100 - 1,546,333RGD
Cytogenetic Map19p13.3UniSTS
HuRef191,385,187 - 1,385,420UniSTS
GeneMap99-GB4 RH Map193.3UniSTS
G15946  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,610,398 - 1,610,622UniSTSGRCh37
Build 36191,561,398 - 1,561,622RGDNCBI36
Celera191,545,254 - 1,545,478RGD
Cytogenetic Map19p13.3UniSTS
HuRef191,384,341 - 1,384,565UniSTS
WI-18183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,610,973 - 1,611,100UniSTSGRCh37
Build 36191,561,973 - 1,562,100RGDNCBI36
Celera191,545,829 - 1,545,956RGD
Cytogenetic Map19p13.3UniSTS
HuRef191,384,916 - 1,385,043UniSTS
GeneMap99-GB4 RH Map1918.48UniSTS
Whitehead-RH Map196.1UniSTS
RH12886  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,609,549 - 1,609,700UniSTSGRCh37
Build 36191,560,549 - 1,560,700RGDNCBI36
Celera191,544,405 - 1,544,556RGD
Cytogenetic Map19p13.3UniSTS
HuRef191,383,492 - 1,383,643UniSTS
GeneMap99-GB4 RH Map1912.29UniSTS
G29322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,611,492 - 1,611,708UniSTSGRCh37
Build 36191,562,492 - 1,562,708RGDNCBI36
Celera191,546,348 - 1,546,564RGD
Cytogenetic Map19p13.3UniSTS
HuRef191,385,435 - 1,385,651UniSTS
TCF3_4169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,610,831 - 1,611,715UniSTSGRCh37
Build 36191,561,831 - 1,562,715RGDNCBI36
Celera191,545,687 - 1,546,571RGD
HuRef191,384,774 - 1,385,658UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR17hsa-miR-17-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23492770

Predicted Target Of
Summary Value
Count of predictions:8419
Count of miRNA genes:1101
Interacting mature miRNAs:1404
Transcripts:ENST00000262965, ENST00000344749, ENST00000395423, ENST00000453954, ENST00000585731, ENST00000585855, ENST00000586164, ENST00000586318, ENST00000586410, ENST00000587235, ENST00000587425, ENST00000588136, ENST00000590436, ENST00000590605, ENST00000590684, ENST00000592395, ENST00000592628, ENST00000593064
Prediction methods:Microtar, Miranda, Rnahybrid
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 adipose tissue appendage entire extraembryonic component
High 1
Medium 2341 1830 1222 266 1585 117 3629 1025 1617 317 1444 1600 163 1138 2070 3
Low 91 1154 501 356 362 347 726 1168 2091 101 4 8 8 66 718 1
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001136139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA251176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW028755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW968445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG284440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU528547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD516687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD674814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU155120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI179080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF303591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M24404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M24405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M31222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M31523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M65214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW400958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK334277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK635613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X52078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262965   ⟹   ENSP00000262965
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,609,292 - 1,652,615 (-)Ensembl
RefSeq Acc Id: ENST00000344749   ⟹   ENSP00000344375
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,609,290 - 1,652,329 (-)Ensembl
RefSeq Acc Id: ENST00000395423   ⟹   ENSP00000378813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,611,249 - 1,652,604 (-)Ensembl
RefSeq Acc Id: ENST00000453954   ⟹   ENSP00000396363
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,609,293 - 1,652,591 (-)Ensembl
RefSeq Acc Id: ENST00000585731   ⟹   ENSP00000465510
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,610,965 - 1,615,798 (-)Ensembl
RefSeq Acc Id: ENST00000585855   ⟹   ENSP00000465481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,611,314 - 1,619,150 (-)Ensembl
RefSeq Acc Id: ENST00000586164   ⟹   ENSP00000467972
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,611,755 - 1,615,798 (-)Ensembl
RefSeq Acc Id: ENST00000586318   ⟹   ENSP00000466954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,632,051 - 1,651,356 (-)Ensembl
RefSeq Acc Id: ENST00000586410   ⟹   ENSP00000467388
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,615,811 - 1,621,046 (-)Ensembl
RefSeq Acc Id: ENST00000587235   ⟹   ENSP00000466052
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,625,621 - 1,650,745 (-)Ensembl
RefSeq Acc Id: ENST00000587425   ⟹   ENSP00000467508
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,609,472 - 1,615,804 (-)Ensembl
RefSeq Acc Id: ENST00000588136   ⟹   ENSP00000468487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,609,292 - 1,652,615 (-)Ensembl
RefSeq Acc Id: ENST00000590436   ⟹   ENSP00000466952
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,611,168 - 1,619,853 (-)Ensembl
RefSeq Acc Id: ENST00000590605
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,615,791 - 1,621,206 (-)Ensembl
RefSeq Acc Id: ENST00000590684   ⟹   ENSP00000466565
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,611,056 - 1,619,347 (-)Ensembl
RefSeq Acc Id: ENST00000592395   ⟹   ENSP00000465251
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,609,291 - 1,615,798 (-)Ensembl
RefSeq Acc Id: ENST00000592628   ⟹   ENSP00000465549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,609,293 - 1,619,135 (-)Ensembl
RefSeq Acc Id: ENST00000593064   ⟹   ENSP00000468481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,609,293 - 1,619,209 (-)Ensembl
RefSeq Acc Id: ENST00000610756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,611,687 - 1,622,236 (-)Ensembl
RefSeq Acc Id: ENST00000611869   ⟹   ENSP00000480564
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,609,290 - 1,650,287 (-)Ensembl
RefSeq Acc Id: ENST00000651991   ⟹   ENSP00000499183
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,611,170 - 1,619,116 (-)Ensembl
RefSeq Acc Id: NM_001136139   ⟹   NP_001129611
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
GRCh37191,609,289 - 1,652,328 (-)NCBI
HuRef191,383,232 - 1,423,075 (-)NCBI
CHM1_1191,609,123 - 1,649,873 (-)NCBI
T2T-CHM13v2.0191,580,117 - 1,623,781 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001351778   ⟹   NP_001338707
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
T2T-CHM13v2.0191,580,117 - 1,623,781 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001351779   ⟹   NP_001338708
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
T2T-CHM13v2.0191,580,117 - 1,623,781 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003200   ⟹   NP_003191
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
GRCh37191,609,289 - 1,652,328 (-)NCBI
Build 36191,560,293 - 1,601,277 (-)NCBI Archive
HuRef191,383,232 - 1,423,075 (-)NCBI
CHM1_1191,609,123 - 1,649,881 (-)NCBI
T2T-CHM13v2.0191,580,117 - 1,623,781 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006722855   ⟹   XP_006722918
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528225   ⟹   XP_011526527
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528226   ⟹   XP_011526528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017027178   ⟹   XP_016882667
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017027181   ⟹   XP_016882670
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047439258   ⟹   XP_047295214
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439259   ⟹   XP_047295215
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439260   ⟹   XP_047295216
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439261   ⟹   XP_047295217
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439262   ⟹   XP_047295218
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439263   ⟹   XP_047295219
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,148 (-)NCBI
RefSeq Acc Id: XM_047439264   ⟹   XP_047295220
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,148 (-)NCBI
RefSeq Acc Id: XM_047439265   ⟹   XP_047295221
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,148 (-)NCBI
RefSeq Acc Id: XM_047439266   ⟹   XP_047295222
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,148 (-)NCBI
RefSeq Acc Id: XM_047439267   ⟹   XP_047295223
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,148 (-)NCBI
RefSeq Acc Id: XM_047439268   ⟹   XP_047295224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,148 (-)NCBI
RefSeq Acc Id: XM_047439269   ⟹   XP_047295225
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,148 (-)NCBI
RefSeq Acc Id: XM_047439270   ⟹   XP_047295226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,148 (-)NCBI
RefSeq Acc Id: XM_047439271   ⟹   XP_047295227
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,148 (-)NCBI
RefSeq Acc Id: XM_047439272   ⟹   XP_047295228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,148 (-)NCBI
RefSeq Acc Id: XM_047439273   ⟹   XP_047295229
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,148 (-)NCBI
RefSeq Acc Id: XM_047439274   ⟹   XP_047295230
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,148 (-)NCBI
RefSeq Acc Id: XM_047439275   ⟹   XP_047295231
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,148 (-)NCBI
RefSeq Acc Id: XM_047439276   ⟹   XP_047295232
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439277   ⟹   XP_047295233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439278   ⟹   XP_047295234
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439279   ⟹   XP_047295235
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439280   ⟹   XP_047295236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439281   ⟹   XP_047295237
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439282   ⟹   XP_047295238
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439283   ⟹   XP_047295239
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439284   ⟹   XP_047295240
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439285   ⟹   XP_047295241
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439286   ⟹   XP_047295242
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439287   ⟹   XP_047295243
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439288   ⟹   XP_047295244
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,148 (-)NCBI
RefSeq Acc Id: XM_047439289   ⟹   XP_047295245
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439290   ⟹   XP_047295246
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439291   ⟹   XP_047295247
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439292   ⟹   XP_047295248
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,148 (-)NCBI
RefSeq Acc Id: XM_047439293   ⟹   XP_047295249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,148 (-)NCBI
RefSeq Acc Id: XM_047439294   ⟹   XP_047295250
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439295   ⟹   XP_047295251
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439296   ⟹   XP_047295252
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439297   ⟹   XP_047295253
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
RefSeq Acc Id: XM_047439298   ⟹   XP_047295254
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,609,292 - 1,652,615 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001129611 (Get FASTA)   NCBI Sequence Viewer  
  NP_001338707 (Get FASTA)   NCBI Sequence Viewer  
  NP_001338708 (Get FASTA)   NCBI Sequence Viewer  
  NP_003191 (Get FASTA)   NCBI Sequence Viewer  
  XP_006722918 (Get FASTA)   NCBI Sequence Viewer  
  XP_011526527 (Get FASTA)   NCBI Sequence Viewer  
  XP_011526528 (Get FASTA)   NCBI Sequence Viewer  
  XP_016882667 (Get FASTA)   NCBI Sequence Viewer  
  XP_016882670 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295214 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295215 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295216 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295217 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295218 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295219 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295220 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295221 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295222 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295223 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295224 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295225 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295226 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295227 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295228 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295229 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295230 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295231 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295232 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295233 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295234 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295235 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295236 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295237 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295238 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295239 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295240 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295241 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295242 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295243 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295244 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295245 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295246 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295247 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295248 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295249 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295250 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295251 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295252 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295253 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295254 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52331 (Get FASTA)   NCBI Sequence Viewer  
  AAA56829 (Get FASTA)   NCBI Sequence Viewer  
  AAA56830 (Get FASTA)   NCBI Sequence Viewer  
  AAA61146 (Get FASTA)   NCBI Sequence Viewer  
  AAC27373 (Get FASTA)   NCBI Sequence Viewer  
  AAC41693 (Get FASTA)   NCBI Sequence Viewer  
  AAC99797 (Get FASTA)   NCBI Sequence Viewer  
  AAH11665 (Get FASTA)   NCBI Sequence Viewer  
  AAI10580 (Get FASTA)   NCBI Sequence Viewer  
  AAI10581 (Get FASTA)   NCBI Sequence Viewer  
  AGX32161 (Get FASTA)   NCBI Sequence Viewer  
  CAA36297 (Get FASTA)   NCBI Sequence Viewer  
  CBX53848 (Get FASTA)   NCBI Sequence Viewer  
  EAW69467 (Get FASTA)   NCBI Sequence Viewer  
  EAW69468 (Get FASTA)   NCBI Sequence Viewer  
  EAW69469 (Get FASTA)   NCBI Sequence Viewer  
  EAW69470 (Get FASTA)   NCBI Sequence Viewer  
  EAW69471 (Get FASTA)   NCBI Sequence Viewer  
  EAW69472 (Get FASTA)   NCBI Sequence Viewer  
  P15923 (Get FASTA)   NCBI Sequence Viewer  
  QSQ01618 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_003191   ⟸   NM_003200
- Peptide Label: isoform E12
- UniProtKB: Q9UPI9 (UniProtKB/Swiss-Prot),   P15923 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001129611   ⟸   NM_001136139
- Peptide Label: isoform E47
- UniProtKB: P15923 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006722918   ⟸   XM_006722855
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011526528   ⟸   XM_011528226
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011526527   ⟸   XM_011528225
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016882667   ⟸   XM_017027178
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016882670   ⟸   XM_017027181
- Peptide Label: isoform X4
- UniProtKB: Q9UPI9 (UniProtKB/Swiss-Prot),   P15923 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001338707   ⟸   NM_001351778
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001338708   ⟸   NM_001351779
- Peptide Label: isoform E47
- Sequence:
RefSeq Acc Id: ENSP00000396363   ⟸   ENST00000453954
RefSeq Acc Id: ENSP00000465481   ⟸   ENST00000585855
RefSeq Acc Id: ENSP00000465510   ⟸   ENST00000585731
RefSeq Acc Id: ENSP00000466954   ⟸   ENST00000586318
RefSeq Acc Id: ENSP00000467972   ⟸   ENST00000586164
RefSeq Acc Id: ENSP00000467388   ⟸   ENST00000586410
RefSeq Acc Id: ENSP00000480564   ⟸   ENST00000611869
RefSeq Acc Id: ENSP00000499183   ⟸   ENST00000651991
RefSeq Acc Id: ENSP00000467508   ⟸   ENST00000587425
RefSeq Acc Id: ENSP00000466052   ⟸   ENST00000587235
RefSeq Acc Id: ENSP00000468487   ⟸   ENST00000588136
RefSeq Acc Id: ENSP00000466565   ⟸   ENST00000590684
RefSeq Acc Id: ENSP00000466952   ⟸   ENST00000590436
RefSeq Acc Id: ENSP00000262965   ⟸   ENST00000262965
RefSeq Acc Id: ENSP00000378813   ⟸   ENST00000395423
RefSeq Acc Id: ENSP00000465549   ⟸   ENST00000592628
RefSeq Acc Id: ENSP00000465251   ⟸   ENST00000592395
RefSeq Acc Id: ENSP00000468481   ⟸   ENST00000593064
RefSeq Acc Id: ENSP00000344375   ⟸   ENST00000344749
RefSeq Acc Id: XP_047295254   ⟸   XM_047439298
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047295253   ⟸   XM_047439297
- Peptide Label: isoform X10
- UniProtKB: A0A0A0MRB7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047295252   ⟸   XM_047439296
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047295250   ⟸   XM_047439294
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047295246   ⟸   XM_047439290
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047295242   ⟸   XM_047439286
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047295235   ⟸   XM_047439279
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047295241   ⟸   XM_047439285
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047295240   ⟸   XM_047439284
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047295239   ⟸   XM_047439283
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047295234   ⟸   XM_047439278
- Peptide Label: isoform X4
- UniProtKB: Q9UPI9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047295233   ⟸   XM_047439277
- Peptide Label: isoform X4
- UniProtKB: Q9UPI9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047295217   ⟸   XM_047439261
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047295218   ⟸   XM_047439262
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047295215   ⟸   XM_047439259
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047295216   ⟸   XM_047439260
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047295251   ⟸   XM_047439295
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047295247   ⟸   XM_047439291
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047295236   ⟸   XM_047439280
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047295245   ⟸   XM_047439289
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047295243   ⟸   XM_047439287
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047295238   ⟸   XM_047439282
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047295237   ⟸   XM_047439281
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047295232   ⟸   XM_047439276
- Peptide Label: isoform X4
- UniProtKB: Q9UPI9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047295214   ⟸   XM_047439258
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047295249   ⟸   XM_047439293
- Peptide Label: isoform X10
- UniProtKB: A0A0A0MRB7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047295248   ⟸   XM_047439292
- Peptide Label: isoform X10
- UniProtKB: A0A0A0MRB7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047295231   ⟸   XM_047439275
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047295230   ⟸   XM_047439274
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047295229   ⟸   XM_047439273
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047295227   ⟸   XM_047439271
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047295223   ⟸   XM_047439267
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047295222   ⟸   XM_047439266
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047295244   ⟸   XM_047439288
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047295228   ⟸   XM_047439272
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047295226   ⟸   XM_047439270
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047295225   ⟸   XM_047439269
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047295224   ⟸   XM_047439268
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047295221   ⟸   XM_047439265
- Peptide Label: isoform X4
- UniProtKB: Q9UPI9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047295220   ⟸   XM_047439264
- Peptide Label: isoform X4
- UniProtKB: Q9UPI9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047295219   ⟸   XM_047439263
- Peptide Label: isoform X4
- UniProtKB: Q9UPI9 (UniProtKB/Swiss-Prot)
Protein Domains
bHLH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P15923-F1-model_v2 AlphaFold P15923 1-654 view protein structure

Promoters
RGD ID:6796091
Promoter ID:HG_KWN:28413
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC002LTO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36191,572,866 - 1,574,062 (-)MPROMDB
RGD ID:6816194
Promoter ID:HG_SPT:29469
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:AA219726,   AA251395,   BF685103,   BG259041,   BQ213040,   BQ893251,   BQ925490,   BU528547,   BX389783,   BX389784,   CN418681,   CR999209,   R53188,   R54770,   R71754
Position:
Human AssemblyChrPosition (strand)Source
Build 36191,576,421 - 1,576,921 (-)MPROMDB
RGD ID:6796094
Promoter ID:HG_KWN:28414
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:UC002LTS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36191,582,721 - 1,583,221 (-)MPROMDB
RGD ID:6796093
Promoter ID:HG_KWN:28417
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC002LTR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36191,602,951 - 1,604,212 (-)MPROMDB
RGD ID:7237865
Promoter ID:EPDNEW_H24678
Type:initiation region
Name:TCF3_3
Description:transcription factor 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24679  EPDNEW_H24680  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,622,148 - 1,622,208EPDNEW
RGD ID:7237867
Promoter ID:EPDNEW_H24679
Type:initiation region
Name:TCF3_1
Description:transcription factor 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24678  EPDNEW_H24680  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,652,345 - 1,652,405EPDNEW
RGD ID:7237869
Promoter ID:EPDNEW_H24680
Type:initiation region
Name:TCF3_2
Description:transcription factor 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24678  EPDNEW_H24679  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,652,885 - 1,652,945EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3 copy number gain See cases [RCV000051044] Chr19:259395..2555149 [GRCh38]
Chr19:259395..2555147 [GRCh37]
Chr19:210395..2506147 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3 copy number gain See cases [RCV000052878] Chr19:1565575..4108128 [GRCh38]
Chr19:1565574..4108126 [GRCh37]
Chr19:1516574..4059126 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:259395-1952650)x3 copy number gain See cases [RCV000052875] Chr19:259395..1952650 [GRCh38]
Chr19:259395..1952649 [GRCh37]
Chr19:210395..1903649 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:945098-1972299)x1 copy number loss See cases [RCV000053938] Chr19:945098..1972299 [GRCh38]
Chr19:945098..1972298 [GRCh37]
Chr19:896098..1923298 [NCBI36]
Chr19:19p13.3
pathogenic
NM_003200.5(TCF3):c.1633G>A (p.Glu545Lys) single nucleotide variant not provided [RCV001889263] Chr19:1615474 [GRCh38]
Chr19:1615473 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.822+14C>T single nucleotide variant not provided [RCV000514965] Chr19:1622040 [GRCh38]
Chr19:1622039 [GRCh37]
Chr19:19p13.3
benign|likely benign
GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1 copy number loss See cases [RCV000134795] Chr19:1549144..4288720 [GRCh38]
Chr19:1549143..4288717 [GRCh37]
Chr19:1500143..4239717 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3 copy number gain See cases [RCV000134894] Chr19:421537..2897921 [GRCh38]
Chr19:421537..2897919 [GRCh37]
Chr19:372537..2848919 [NCBI36]
Chr19:19p13.3
likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2068507)x3 copy number gain See cases [RCV000135433] Chr19:259395..2068507 [GRCh38]
Chr19:259395..2068506 [GRCh37]
Chr19:210395..2019506 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3 copy number gain See cases [RCV000136880] Chr19:1351163..2555149 [GRCh38]
Chr19:1351162..2555147 [GRCh37]
Chr19:1302162..2506147 [NCBI36]
Chr19:19p13.3
uncertain significance
GRCh38/hg38 19p13.3(chr19:275925-1892276)x3 copy number gain See cases [RCV000141358] Chr19:275925..1892276 [GRCh38]
Chr19:275925..1892275 [GRCh37]
Chr19:226925..1843275 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3
pathogenic
NM_003200.5(TCF3):c.1823-416G>A single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV000768334] Chr19:1612265 [GRCh38]
Chr19:1612264 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1823-508G>A single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV000211091]|not provided [RCV001853399] Chr19:1612357 [GRCh38]
Chr19:1612356 [GRCh37]
Chr19:19p13.3
pathogenic
NM_003200.5(TCF3):c.1342C>G (p.Pro448Ala) single nucleotide variant not provided [RCV001344876]|not specified [RCV000238949] Chr19:1619219 [GRCh38]
Chr19:1619218 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3 copy number gain See cases [RCV000240507] Chr19:277373..2555164 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:260911-1965786)x3 copy number gain See cases [RCV000511452] Chr19:260911..1965786 [GRCh37]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3(chr19:259395-3152419) copy number gain Global developmental delay [RCV000626520] Chr19:259395..3152419 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_003200.5(TCF3):c.1823-471G>A single nucleotide variant not provided [RCV000658812] Chr19:1612320 [GRCh38]
Chr19:1612319 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1687C>T (p.Arg563Cys) single nucleotide variant not provided [RCV000658813] Chr19:1615420 [GRCh38]
Chr19:1615419 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.997G>A (p.Gly333Ser) single nucleotide variant not provided [RCV000658814] Chr19:1621150 [GRCh38]
Chr19:1621149 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.229G>A (p.Glu77Lys) single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV000768102]|not provided [RCV001855969] Chr19:1632107 [GRCh38]
Chr19:1632106 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3 copy number gain not provided [RCV000684094] Chr19:260911..3200875 [GRCh37]
Chr19:19p13.3
pathogenic
NM_003200.5(TCF3):c.463G>A (p.Gly155Ser) single nucleotide variant not provided [RCV001889227] Chr19:1625612 [GRCh38]
Chr19:1625611 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_003200.5(TCF3):c.359T>C (p.Leu120Pro) single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV001286250]|not provided [RCV001518426] Chr19:1627366 [GRCh38]
Chr19:1627365 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:1627422-1628892)x1 copy number loss not provided [RCV000752498] Chr19:1627422..1628892 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:1627422-1629080)x1 copy number loss not provided [RCV000752499] Chr19:1627422..1629080 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:1627422-1630341)x1 copy number loss not provided [RCV000752500] Chr19:1627422..1630341 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1496G>T (p.Arg499Leu) single nucleotide variant not provided [RCV000900275] Chr19:1615776 [GRCh38]
Chr19:1615775 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1085G>A (p.Gly362Asp) single nucleotide variant not provided [RCV000906038] Chr19:1620976 [GRCh38]
Chr19:1620975 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.441C>T (p.Ser147=) single nucleotide variant not provided [RCV000906092] Chr19:1625634 [GRCh38]
Chr19:1625633 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.525G>A (p.Lys175=) single nucleotide variant not provided [RCV000903218] Chr19:1623975 [GRCh38]
Chr19:1623974 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.342C>T (p.Asp114=) single nucleotide variant not provided [RCV000924891] Chr19:1627383 [GRCh38]
Chr19:1627382 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.306C>T (p.Ser102=) single nucleotide variant not provided [RCV000915351] Chr19:1627419 [GRCh38]
Chr19:1627418 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1425G>C (p.Leu475=) single nucleotide variant not provided [RCV000915786] Chr19:1619136 [GRCh38]
Chr19:1619135 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1059T>G (p.Pro353=) single nucleotide variant not provided [RCV000899978] Chr19:1621002 [GRCh38]
Chr19:1621001 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1948C>A (p.Pro650Thr) single nucleotide variant not provided [RCV000880448] Chr19:1611724 [GRCh38]
Chr19:1611723 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.888C>T (p.Ala296=) single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV001000455]|not provided [RCV000898912] Chr19:1621905 [GRCh38]
Chr19:1621904 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_003200.5(TCF3):c.1326+7G>A single nucleotide variant not provided [RCV000900234] Chr19:1619309 [GRCh38]
Chr19:1619308 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.128C>T (p.Ala43Val) single nucleotide variant not provided [RCV000788824] Chr19:1646372 [GRCh38]
Chr19:1646371 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1154G>A (p.Gly385Asp) single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV001804050]|not provided [RCV000886146] Chr19:1619793 [GRCh38]
Chr19:1619792 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_003200.5(TCF3):c.924G>A (p.Thr308=) single nucleotide variant not provided [RCV000896167] Chr19:1621869 [GRCh38]
Chr19:1621868 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.276A>G (p.Thr92=) single nucleotide variant not provided [RCV000963003] Chr19:1632060 [GRCh38]
Chr19:1632059 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.603G>A (p.Pro201=) single nucleotide variant not provided [RCV000895888] Chr19:1622362 [GRCh38]
Chr19:1622361 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.987G>A (p.Gly329=) single nucleotide variant not provided [RCV000941157] Chr19:1621160 [GRCh38]
Chr19:1621159 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1932G>C (p.Leu644=) single nucleotide variant not provided [RCV000942284] Chr19:1611740 [GRCh38]
Chr19:1611739 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.307G>A (p.Gly103Ser) single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV001027849]|not provided [RCV000905107] Chr19:1627418 [GRCh38]
Chr19:1627417 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_003200.5(TCF3):c.1650C>T (p.Arg550=) single nucleotide variant not provided [RCV000916807] Chr19:1615457 [GRCh38]
Chr19:1615456 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.22G>T (p.Ala8Ser) single nucleotide variant not provided [RCV000963690] Chr19:1650227 [GRCh38]
Chr19:1650226 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1731A>G (p.Gln577=) single nucleotide variant not provided [RCV000893236] Chr19:1615376 [GRCh38]
Chr19:1615375 [GRCh37]
Chr19:19p13.3
likely benign
NC_000019.9:g.1406030_3597207dup duplication Neurodevelopmental disorder [RCV000787423] Chr19:1406030..3597207 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3 copy number gain not provided [RCV001007025] Chr19:260911..3501271 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:1342624-1817866)x3 copy number gain not provided [RCV000846077] Chr19:1342624..1817866 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1040A>C (p.Asn347Thr) single nucleotide variant Castleman-Kojima disease [RCV000824693] Chr19:1621021 [GRCh38]
Chr19:1621020 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.607G>A (p.Ala203Thr) single nucleotide variant not provided [RCV000788626] Chr19:1622358 [GRCh38]
Chr19:1622357 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1617C>A (p.Pro539=) single nucleotide variant not provided [RCV000976547] Chr19:1615490 [GRCh38]
Chr19:1615489 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1486G>A (p.Glu496Lys) single nucleotide variant not provided [RCV000996712] Chr19:1615786 [GRCh38]
Chr19:1615785 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.549+7C>T single nucleotide variant not provided [RCV001092099] Chr19:1623944 [GRCh38]
Chr19:1623943 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.792G>A (p.Thr264=) single nucleotide variant not provided [RCV000996713] Chr19:1622084 [GRCh38]
Chr19:1622083 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1324C>T (p.Leu442=) single nucleotide variant not provided [RCV000976167] Chr19:1619318 [GRCh38]
Chr19:1619317 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1232C>T (p.Thr411Ile) single nucleotide variant not provided [RCV001907702] Chr19:1619410 [GRCh38]
Chr19:1619409 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1326+7G>T single nucleotide variant not provided [RCV000892308] Chr19:1619309 [GRCh38]
Chr19:1619308 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3
pathogenic
NM_003200.5(TCF3):c.302A>G (p.Lys101Arg) single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV001000508]|not provided [RCV001511492] Chr19:1627423 [GRCh38]
Chr19:1627422 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1806G>A (p.Leu602=) single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV001002629] Chr19:1615301 [GRCh38]
Chr19:1615300 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.72+42T>C single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV001544244] Chr19:1650135 [GRCh38]
Chr19:1650134 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.145+133G>A single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV001544243] Chr19:1646222 [GRCh38]
Chr19:1646221 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1080C>G (p.Pro360=) single nucleotide variant not provided [RCV000895823] Chr19:1620981 [GRCh38]
Chr19:1620980 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.927G>A (p.Pro309=) single nucleotide variant not provided [RCV000958754] Chr19:1621866 [GRCh38]
Chr19:1621865 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1823-478G>A single nucleotide variant Multiple myeloma [RCV000984089] Chr19:1612327 [GRCh38]
Chr19:1612326 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_003200.5(TCF3):c.879CTC[1] (p.Ser295del) microsatellite Agammaglobulinemia 8, autosomal dominant [RCV001002359]|not provided [RCV000886887] Chr19:1621909..1621911 [GRCh38]
Chr19:1621908..1621910 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1539C>G (p.His513Gln) single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV001285738]|not provided [RCV000972937] Chr19:1615733 [GRCh38]
Chr19:1615732 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1485C>T (p.Ser495=) single nucleotide variant not provided [RCV000972938] Chr19:1615787 [GRCh38]
Chr19:1615786 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.333C>T (p.Phe111=) single nucleotide variant not provided [RCV000910788] Chr19:1627392 [GRCh38]
Chr19:1627391 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.315G>A (p.Arg105=) single nucleotide variant not provided [RCV000892682] Chr19:1627410 [GRCh38]
Chr19:1627409 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.294C>T (p.Leu98=) single nucleotide variant not provided [RCV000938543] Chr19:1632042 [GRCh38]
Chr19:1632041 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.898A>G (p.Thr300Ala) single nucleotide variant not provided [RCV000910869] Chr19:1621895 [GRCh38]
Chr19:1621894 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.450C>T (p.Tyr150=) single nucleotide variant not provided [RCV000918361] Chr19:1625625 [GRCh38]
Chr19:1625624 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.765G>A (p.Pro255=) single nucleotide variant not provided [RCV000957812] Chr19:1622111 [GRCh38]
Chr19:1622110 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.558A>G (p.Pro186=) single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV001285741]|not provided [RCV000957814] Chr19:1622407 [GRCh38]
Chr19:1622406 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.592A>G (p.Thr198Ala) single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV001285740]|not provided [RCV000957813] Chr19:1622373 [GRCh38]
Chr19:1622372 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1713G>A (p.Glu571=) single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV001285377]|not provided [RCV000889842] Chr19:1615394 [GRCh38]
Chr19:1615393 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_003200.5(TCF3):c.1167+10T>G single nucleotide variant not provided [RCV000911887] Chr19:1619770 [GRCh38]
Chr19:1619769 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1564A>C (p.Lys522Gln) single nucleotide variant not provided [RCV000911532] Chr19:1615708 [GRCh38]
Chr19:1615707 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.750G>A (p.Pro250=) single nucleotide variant not provided [RCV000890111] Chr19:1622126 [GRCh38]
Chr19:1622125 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.633C>T (p.Pro211=) single nucleotide variant not provided [RCV000890639] Chr19:1622332 [GRCh38]
Chr19:1622331 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3 copy number gain not provided [RCV001007026] Chr19:1075192..2256387 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_003200.5(TCF3):c.23C>T (p.Ala8Val) single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV001001112]|not provided [RCV001869426] Chr19:1650226 [GRCh38]
Chr19:1650225 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.72+5G>T single nucleotide variant not provided [RCV001038471] Chr19:1650172 [GRCh38]
Chr19:1650171 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1618C>G (p.Pro540Ala) single nucleotide variant not provided [RCV001248844] Chr19:1615489 [GRCh38]
Chr19:1615488 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1338_1360del (p.Ser446fs) deletion Agammaglobulinemia 8, autosomal dominant [RCV001262287] Chr19:1619201..1619223 [GRCh38]
Chr19:1619200..1619222 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_003200.5(TCF3):c.473G>A (p.Arg158Gln) single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV001267798]|not provided [RCV001347687] Chr19:1625602 [GRCh38]
Chr19:1625601 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1720C>T (p.Arg574Cys) single nucleotide variant not provided [RCV001312263] Chr19:1615387 [GRCh38]
Chr19:1615386 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.409C>T (p.Pro137Ser) single nucleotide variant not provided [RCV001294884] Chr19:1625666 [GRCh38]
Chr19:1625665 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1800G>A (p.Leu600=) single nucleotide variant not provided [RCV001422337] Chr19:1615307 [GRCh38]
Chr19:1615306 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.634G>A (p.Ala212Thr) single nucleotide variant not provided [RCV001368632] Chr19:1622331 [GRCh38]
Chr19:1622330 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.737C>T (p.Pro246Leu) single nucleotide variant not provided [RCV001351938] Chr19:1622139 [GRCh38]
Chr19:1622138 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_003200.5(TCF3):c.1587-6C>T single nucleotide variant not provided [RCV001347185] Chr19:1615526 [GRCh38]
Chr19:1615525 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1945A>C (p.Asn649His) single nucleotide variant not provided [RCV001350294] Chr19:1611727 [GRCh38]
Chr19:1611726 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1327-3C>A single nucleotide variant not provided [RCV001360033] Chr19:1619237 [GRCh38]
Chr19:1619236 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1823-448A>C single nucleotide variant not provided [RCV001421477] Chr19:1612297 [GRCh38]
Chr19:1612296 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1552A>G (p.Lys518Glu) single nucleotide variant not provided [RCV001295420] Chr19:1615720 [GRCh38]
Chr19:1615719 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1062T>C (p.Ser354=) single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV001285739]|not provided [RCV001510563] Chr19:1620999 [GRCh38]
Chr19:1620998 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1541C>T (p.Ser514Leu) single nucleotide variant not provided [RCV001357946] Chr19:1615731 [GRCh38]
Chr19:1615730 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1584C>T (p.Thr528=) single nucleotide variant not provided [RCV001486967] Chr19:1615688 [GRCh38]
Chr19:1615687 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1308C>T (p.Gly436=) single nucleotide variant not provided [RCV001520710] Chr19:1619334 [GRCh38]
Chr19:1619333 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1271C>T (p.Ala424Val) single nucleotide variant not provided [RCV001510974] Chr19:1619371 [GRCh38]
Chr19:1619370 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.891C>T (p.Pro297=) single nucleotide variant not provided [RCV001506884] Chr19:1621902 [GRCh38]
Chr19:1621901 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1291G>A (p.Gly431Ser) single nucleotide variant not provided [RCV001517623] Chr19:1619351 [GRCh38]
Chr19:1619350 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1475C>T (p.Ala492Val) single nucleotide variant not provided [RCV001513314] Chr19:1615797 [GRCh38]
Chr19:1615796 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1327-15dup duplication not provided [RCV001486045] Chr19:1619248..1619249 [GRCh38]
Chr19:1619247..1619248 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.714C>T (p.Pro238=) single nucleotide variant not provided [RCV001429500] Chr19:1622162 [GRCh38]
Chr19:1622161 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.489C>T (p.Asp163=) single nucleotide variant not provided [RCV001514530] Chr19:1625586 [GRCh38]
Chr19:1625585 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.906C>T (p.Gly302=) single nucleotide variant not provided [RCV001419836] Chr19:1621887 [GRCh38]
Chr19:1621886 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.252G>A (p.Ser84=) single nucleotide variant not provided [RCV001412181] Chr19:1632084 [GRCh38]
Chr19:1632083 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.146-6C>T single nucleotide variant not provided [RCV001415634] Chr19:1632411 [GRCh38]
Chr19:1632410 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.813C>T (p.His271=) single nucleotide variant not provided [RCV001431885] Chr19:1622063 [GRCh38]
Chr19:1622062 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.366+11C>T single nucleotide variant not provided [RCV001509880] Chr19:1627348 [GRCh38]
Chr19:1627347 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.500-8T>C single nucleotide variant not provided [RCV001520711] Chr19:1624008 [GRCh38]
Chr19:1624007 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.499+17C>T single nucleotide variant not provided [RCV001515843] Chr19:1625559 [GRCh38]
Chr19:1625558 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1524G>A (p.Thr508=) single nucleotide variant not provided [RCV001521123] Chr19:1615748 [GRCh38]
Chr19:1615747 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1293C>T (p.Gly431=) single nucleotide variant not provided [RCV001521404] Chr19:1619349 [GRCh38]
Chr19:1619348 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.652+16G>T single nucleotide variant not provided [RCV001513144] Chr19:1622297 [GRCh38]
Chr19:1622296 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.73-15C>T single nucleotide variant not provided [RCV001504399] Chr19:1646442 [GRCh38]
Chr19:1646441 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1167+12C>A single nucleotide variant not provided [RCV001523377] Chr19:1619768 [GRCh38]
Chr19:1619767 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1302A>G (p.Ser434=) single nucleotide variant not provided [RCV001516622] Chr19:1619340 [GRCh38]
Chr19:1619339 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.759C>T (p.Ser253=) single nucleotide variant not provided [RCV001516623] Chr19:1622117 [GRCh38]
Chr19:1622116 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1823-8C>T single nucleotide variant not provided [RCV001520709] Chr19:1611857 [GRCh38]
Chr19:1611856 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.534G>A (p.Pro178=) single nucleotide variant not provided [RCV001484878] Chr19:1623966 [GRCh38]
Chr19:1623965 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.355G>A (p.Gly119Ser) single nucleotide variant not provided [RCV001514952] Chr19:1627370 [GRCh38]
Chr19:1627369 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.702G>A (p.Ala234=) single nucleotide variant not provided [RCV001392864] Chr19:1622174 [GRCh38]
Chr19:1622173 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1451-15_1451-12dup duplication not provided [RCV001480347] Chr19:1615832..1615833 [GRCh38]
Chr19:1615831..1615832 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.900G>A (p.Thr300=) single nucleotide variant not provided [RCV001521500] Chr19:1621893 [GRCh38]
Chr19:1621892 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1188C>T (p.His396=) single nucleotide variant not provided [RCV001517727] Chr19:1619454 [GRCh38]
Chr19:1619453 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1530G>A (p.Ala510=) single nucleotide variant not provided [RCV001479276] Chr19:1615742 [GRCh38]
Chr19:1615741 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.452C>T (p.Pro151Leu) single nucleotide variant not provided [RCV001517806] Chr19:1625623 [GRCh38]
Chr19:1625622 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1443C>G (p.Ser481=) single nucleotide variant not provided [RCV001463859] Chr19:1619118 [GRCh38]
Chr19:1619117 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1549G>C (p.Glu517Gln) single nucleotide variant not provided [RCV001528381] Chr19:1615723 [GRCh38]
Chr19:1615722 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_003200.5(TCF3):c.1781A>T (p.Gln594Leu) single nucleotide variant See cases [RCV002252566] Chr19:1615326 [GRCh38]
Chr19:1615325 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1291_1293delinsAGT (p.Gly431Ser) indel Agammaglobulinemia 8, autosomal dominant [RCV001803549] Chr19:1619349..1619351 [GRCh38]
Chr19:1619348..1619350 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1670G>A (p.Arg557Gln) single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV001809111] Chr19:1615437 [GRCh38]
Chr19:1615436 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.123C>T (p.Ala41=) single nucleotide variant not provided [RCV002001639] Chr19:1646377 [GRCh38]
Chr19:1646376 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.106C>T (p.Arg36Trp) single nucleotide variant not provided [RCV001914602] Chr19:1646394 [GRCh38]
Chr19:1646393 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.530C>T (p.Pro177Leu) single nucleotide variant not provided [RCV001913673] Chr19:1623970 [GRCh38]
Chr19:1623969 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1345G>A (p.Glu449Lys) single nucleotide variant not provided [RCV001909941] Chr19:1619216 [GRCh38]
Chr19:1619215 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.419C>T (p.Pro140Leu) single nucleotide variant not provided [RCV001988299] Chr19:1625656 [GRCh38]
Chr19:1625655 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.107G>A (p.Arg36Gln) single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV001839239]|not provided [RCV001885385] Chr19:1646393 [GRCh38]
Chr19:1646392 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1631C>T (p.Ala544Val) single nucleotide variant not provided [RCV001913099] Chr19:1615476 [GRCh38]
Chr19:1615475 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1242C>A (p.Asp414Glu) single nucleotide variant not provided [RCV001929012] Chr19:1619400 [GRCh38]
Chr19:1619399 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1962G>A (p.Met654Ile) single nucleotide variant not provided [RCV001929029] Chr19:1611710 [GRCh38]
Chr19:1611709 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.404C>G (p.Pro135Arg) single nucleotide variant not provided [RCV001914522] Chr19:1625671 [GRCh38]
Chr19:1625670 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.694G>A (p.Gly232Ser) single nucleotide variant not provided [RCV001928624] Chr19:1622182 [GRCh38]
Chr19:1622181 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1858C>T (p.Arg620Trp) single nucleotide variant not provided [RCV001894909] Chr19:1611814 [GRCh38]
Chr19:1611813 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1661A>G (p.Asn554Ser) single nucleotide variant not provided [RCV002008857] Chr19:1615446 [GRCh38]
Chr19:1615445 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1579C>T (p.Arg527Trp) single nucleotide variant not provided [RCV001909581] Chr19:1615693 [GRCh38]
Chr19:1615692 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.863C>T (p.Pro288Leu) single nucleotide variant not provided [RCV001983340] Chr19:1621930 [GRCh38]
Chr19:1621929 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1373T>A (p.Leu458His) single nucleotide variant not provided [RCV001983389] Chr19:1619188 [GRCh38]
Chr19:1619187 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1207G>A (p.Val403Met) single nucleotide variant not provided [RCV001967567] Chr19:1619435 [GRCh38]
Chr19:1619434 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1357G>A (p.Ala453Thr) single nucleotide variant not provided [RCV001870723] Chr19:1619204 [GRCh38]
Chr19:1619203 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.404C>T (p.Pro135Leu) single nucleotide variant not provided [RCV002040652] Chr19:1625671 [GRCh38]
Chr19:1625670 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.955+204G>A single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV001837305] Chr19:1621634 [GRCh38]
Chr19:1621633 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.287C>T (p.Pro96Leu) single nucleotide variant not provided [RCV001946275] Chr19:1632049 [GRCh38]
Chr19:1632048 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.437C>T (p.Thr146Ile) single nucleotide variant not provided [RCV002005778] Chr19:1625638 [GRCh38]
Chr19:1625637 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1447A>G (p.Ser483Gly) single nucleotide variant not provided [RCV001965242] Chr19:1619114 [GRCh38]
Chr19:1619113 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1580G>A (p.Arg527Gln) single nucleotide variant not provided [RCV001892136] Chr19:1615692 [GRCh38]
Chr19:1615691 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1087C>G (p.Leu363Val) single nucleotide variant not provided [RCV002022687] Chr19:1620974 [GRCh38]
Chr19:1620973 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.349G>A (p.Val117Met) single nucleotide variant not provided [RCV002022739] Chr19:1627376 [GRCh38]
Chr19:1627375 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.499+6C>G single nucleotide variant not provided [RCV001911797] Chr19:1625570 [GRCh38]
Chr19:1625569 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1589C>G (p.Pro530Arg) single nucleotide variant not provided [RCV001927762] Chr19:1615518 [GRCh38]
Chr19:1615517 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1240G>A (p.Asp414Asn) single nucleotide variant not provided [RCV001947807] Chr19:1619402 [GRCh38]
Chr19:1619401 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.406G>A (p.Gly136Arg) single nucleotide variant not provided [RCV001987260] Chr19:1625669 [GRCh38]
Chr19:1625668 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.635C>T (p.Ala212Val) single nucleotide variant not provided [RCV001984701] Chr19:1622330 [GRCh38]
Chr19:1622329 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1948C>T (p.Pro650Ser) single nucleotide variant not provided [RCV002043592] Chr19:1611724 [GRCh38]
Chr19:1611723 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1013C>T (p.Ser338Leu) single nucleotide variant not provided [RCV002040249] Chr19:1621134 [GRCh38]
Chr19:1621133 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1822+5G>C single nucleotide variant not provided [RCV001947109] Chr19:1615280 [GRCh38]
Chr19:1615279 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.807C>G (p.His269Gln) single nucleotide variant not provided [RCV002021352] Chr19:1622069 [GRCh38]
Chr19:1622068 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.86C>G (p.Pro29Arg) single nucleotide variant not provided [RCV002021842] Chr19:1646414 [GRCh38]
Chr19:1646413 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.759C>G (p.Ser253Arg) single nucleotide variant not provided [RCV001987012] Chr19:1622117 [GRCh38]
Chr19:1622116 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.98G>T (p.Gly33Val) single nucleotide variant not provided [RCV002024115] Chr19:1646402 [GRCh38]
Chr19:1646401 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.298+6T>C single nucleotide variant not provided [RCV002024703] Chr19:1632032 [GRCh38]
Chr19:1632031 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1297A>G (p.Met433Val) single nucleotide variant not provided [RCV001964435] Chr19:1619345 [GRCh38]
Chr19:1619344 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.385G>C (p.Glu129Gln) single nucleotide variant not provided [RCV001870736] Chr19:1625690 [GRCh38]
Chr19:1625689 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1552AAG[1] (p.Lys519del) microsatellite not provided [RCV001948268] Chr19:1615715..1615717 [GRCh38]
Chr19:1615714..1615716 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1484G>A (p.Ser495Asn) single nucleotide variant not provided [RCV002039469] Chr19:1615788 [GRCh38]
Chr19:1615787 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.764C>T (p.Pro255Leu) single nucleotide variant not provided [RCV001965476] Chr19:1622112 [GRCh38]
Chr19:1622111 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1721G>A (p.Arg574His) single nucleotide variant not provided [RCV001872848] Chr19:1615386 [GRCh38]
Chr19:1615385 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1121C>A (p.Ala374Asp) single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV001823578] Chr19:1619826 [GRCh38]
Chr19:1619825 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1049C>T (p.Ser350Leu) single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV001823580] Chr19:1621012 [GRCh38]
Chr19:1621011 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.365A>T (p.Gln122Leu) single nucleotide variant not provided [RCV002004422] Chr19:1627360 [GRCh38]
Chr19:1627359 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.124G>A (p.Gly42Arg) single nucleotide variant not provided [RCV001968058] Chr19:1646376 [GRCh38]
Chr19:1646375 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.341A>G (p.Asp114Gly) single nucleotide variant not provided [RCV001984854] Chr19:1627384 [GRCh38]
Chr19:1627383 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.955+6G>T single nucleotide variant not provided [RCV002042159] Chr19:1621832 [GRCh38]
Chr19:1621831 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1496G>A (p.Arg499Gln) single nucleotide variant not provided [RCV001947599] Chr19:1615776 [GRCh38]
Chr19:1615775 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.16A>G (p.Arg6Gly) single nucleotide variant not provided [RCV001984581] Chr19:1650233 [GRCh38]
Chr19:1650232 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.499+6C>T single nucleotide variant not provided [RCV001986739] Chr19:1625570 [GRCh38]
Chr19:1625569 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.776G>A (p.Ser259Asn) single nucleotide variant not provided [RCV002042930] Chr19:1622100 [GRCh38]
Chr19:1622099 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.629A>G (p.Tyr210Cys) single nucleotide variant not provided [RCV001911848] Chr19:1622336 [GRCh38]
Chr19:1622335 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.607G>C (p.Ala203Pro) single nucleotide variant not provided [RCV001909033] Chr19:1622358 [GRCh38]
Chr19:1622357 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.754G>T (p.Gly252Cys) single nucleotide variant not provided [RCV002020637] Chr19:1622122 [GRCh38]
Chr19:1622121 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1282G>C (p.Gly428Arg) single nucleotide variant not provided [RCV001892774] Chr19:1619360 [GRCh38]
Chr19:1619359 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1430G>A (p.Arg477Gln) single nucleotide variant not provided [RCV001941138] Chr19:1619131 [GRCh38]
Chr19:1619130 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1414C>T (p.Leu472Phe) single nucleotide variant not provided [RCV001926058] Chr19:1619147 [GRCh38]
Chr19:1619146 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.214A>T (p.Ser72Cys) single nucleotide variant not provided [RCV001940708] Chr19:1632337 [GRCh38]
Chr19:1632336 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1097C>T (p.Thr366Met) single nucleotide variant not provided [RCV001888093] Chr19:1619850 [GRCh38]
Chr19:1619849 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1495C>T (p.Arg499Trp) single nucleotide variant not provided [RCV001997044] Chr19:1615777 [GRCh38]
Chr19:1615776 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.199T>C (p.Ser67Pro) single nucleotide variant not provided [RCV001942399] Chr19:1632352 [GRCh38]
Chr19:1632351 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.823G>T (p.Gly275Cys) single nucleotide variant not provided [RCV001961258] Chr19:1621970 [GRCh38]
Chr19:1621969 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1546G>A (p.Glu516Lys) single nucleotide variant not provided [RCV002037235] Chr19:1615726 [GRCh38]
Chr19:1615725 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1450+6C>A single nucleotide variant not provided [RCV002018505] Chr19:1619105 [GRCh38]
Chr19:1619104 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.769G>A (p.Gly257Ser) single nucleotide variant not provided [RCV002033963] Chr19:1622107 [GRCh38]
Chr19:1622106 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.754G>A (p.Gly252Ser) single nucleotide variant not provided [RCV001886870] Chr19:1622122 [GRCh38]
Chr19:1622121 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1523C>T (p.Thr508Met) single nucleotide variant not provided [RCV001991756] Chr19:1615749 [GRCh38]
Chr19:1615748 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.97G>A (p.Gly33Arg) single nucleotide variant not provided [RCV001997926] Chr19:1646403 [GRCh38]
Chr19:1646402 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1344C>T (p.Pro448=) single nucleotide variant not provided [RCV001941572] Chr19:1619217 [GRCh38]
Chr19:1619216 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.888C>G (p.Ala296=) single nucleotide variant not provided [RCV002038723] Chr19:1621905 [GRCh38]
Chr19:1621904 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.55C>T (p.Leu19Phe) single nucleotide variant not provided [RCV002048999] Chr19:1650194 [GRCh38]
Chr19:1650193 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.314G>A (p.Arg105Gln) single nucleotide variant not provided [RCV001906391] Chr19:1627411 [GRCh38]
Chr19:1627410 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1448G>T (p.Ser483Ile) single nucleotide variant not provided [RCV001962255] Chr19:1619113 [GRCh38]
Chr19:1619112 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.158G>A (p.Arg53Gln) single nucleotide variant not provided [RCV002035812] Chr19:1632393 [GRCh38]
Chr19:1632392 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1267G>A (p.Gly423Arg) single nucleotide variant not provided [RCV002038816] Chr19:1619375 [GRCh38]
Chr19:1619374 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.377T>C (p.Leu126Pro) single nucleotide variant not provided [RCV001961162] Chr19:1625698 [GRCh38]
Chr19:1625697 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.11C>T (p.Pro4Leu) single nucleotide variant not provided [RCV001887290] Chr19:1650238 [GRCh38]
Chr19:1650237 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1432C>T (p.Pro478Ser) single nucleotide variant not provided [RCV002030593] Chr19:1619129 [GRCh38]
Chr19:1619128 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1573C>T (p.Arg525Trp) single nucleotide variant not provided [RCV002016897] Chr19:1615699 [GRCh38]
Chr19:1615698 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1457G>A (p.Gly486Glu) single nucleotide variant not provided [RCV002014186] Chr19:1615815 [GRCh38]
Chr19:1615814 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.467G>C (p.Ser156Thr) single nucleotide variant not provided [RCV002029515] Chr19:1625608 [GRCh38]
Chr19:1625607 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.602C>T (p.Pro201Leu) single nucleotide variant not provided [RCV001931204] Chr19:1622363 [GRCh38]
Chr19:1622362 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1646A>G (p.Glu549Gly) single nucleotide variant not provided [RCV001867590] Chr19:1615461 [GRCh38]
Chr19:1615460 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.954G>A (p.Leu318=) single nucleotide variant not provided [RCV002047318] Chr19:1621839 [GRCh38]
Chr19:1621838 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.113C>T (p.Ala38Val) single nucleotide variant not provided [RCV002016407] Chr19:1646387 [GRCh38]
Chr19:1646386 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.818G>A (p.Arg273His) single nucleotide variant not provided [RCV001932928] Chr19:1622058 [GRCh38]
Chr19:1622057 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1555A>G (p.Lys519Glu) single nucleotide variant not provided [RCV001915771] Chr19:1615717 [GRCh38]
Chr19:1615716 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1318G>A (p.Ala440Thr) single nucleotide variant not provided [RCV002009766] Chr19:1619324 [GRCh38]
Chr19:1619323 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1666G>A (p.Ala556Thr) single nucleotide variant not provided [RCV002027619] Chr19:1615441 [GRCh38]
Chr19:1615440 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1121C>T (p.Ala374Val) single nucleotide variant not provided [RCV001897408] Chr19:1619826 [GRCh38]
Chr19:1619825 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.781A>G (p.Ser261Gly) single nucleotide variant not provided [RCV001899968] Chr19:1622095 [GRCh38]
Chr19:1622094 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1460G>A (p.Arg487Gln) single nucleotide variant not provided [RCV001932133] Chr19:1615812 [GRCh38]
Chr19:1615811 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1236C>T (p.Ala412=) single nucleotide variant not provided [RCV001878391] Chr19:1619406 [GRCh38]
Chr19:1619405 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1153G>A (p.Gly385Ser) single nucleotide variant not provided [RCV001917574] Chr19:1619794 [GRCh38]
Chr19:1619793 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.753C>T (p.Pro251=) single nucleotide variant not provided [RCV001916287] Chr19:1622123 [GRCh38]
Chr19:1622122 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.205T>C (p.Phe69Leu) single nucleotide variant not provided [RCV002017588] Chr19:1632346 [GRCh38]
Chr19:1632345 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_589946)_(1650247_?)dup duplication not provided [RCV001940167] Chr19:589946..1650247 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1825C>T (p.Arg609Trp) single nucleotide variant not provided [RCV001933681] Chr19:1611847 [GRCh38]
Chr19:1611846 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.37G>A (p.Asp13Asn) single nucleotide variant not provided [RCV002046828] Chr19:1650212 [GRCh38]
Chr19:1650211 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.904G>A (p.Gly302Ser) single nucleotide variant not provided [RCV002035676] Chr19:1621889 [GRCh38]
Chr19:1621888 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1435C>T (p.Pro479Ser) single nucleotide variant not provided [RCV002050964] Chr19:1619126 [GRCh38]
Chr19:1619125 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1313G>A (p.Arg438Gln) single nucleotide variant not provided [RCV001935361] Chr19:1619329 [GRCh38]
Chr19:1619328 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1636C>T (p.Arg546Trp) single nucleotide variant not provided [RCV002048458] Chr19:1615471 [GRCh38]
Chr19:1615470 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1351G>A (p.Gly451Ser) single nucleotide variant not provided [RCV002013339] Chr19:1619210 [GRCh38]
Chr19:1619209 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.308G>A (p.Gly103Asp) single nucleotide variant not provided [RCV001998402] Chr19:1627417 [GRCh38]
Chr19:1627416 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.964G>T (p.Gly322Trp) single nucleotide variant not provided [RCV002027363] Chr19:1621183 [GRCh38]
Chr19:1621182 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1600G>A (p.Glu534Lys) single nucleotide variant not provided [RCV001903102] Chr19:1615507 [GRCh38]
Chr19:1615506 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.66C>A (p.Phe22Leu) single nucleotide variant not provided [RCV002012134] Chr19:1650183 [GRCh38]
Chr19:1650182 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1936G>A (p.Glu646Lys) single nucleotide variant not provided [RCV001989019] Chr19:1611736 [GRCh38]
Chr19:1611735 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.907G>A (p.Gly303Ser) single nucleotide variant not provided [RCV002011042] Chr19:1621886 [GRCh38]
Chr19:1621885 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1342C>T (p.Pro448Ser) single nucleotide variant not provided [RCV001915954] Chr19:1619219 [GRCh38]
Chr19:1619218 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1480G>A (p.Ala494Thr) single nucleotide variant not provided [RCV001924888] Chr19:1615792 [GRCh38]
Chr19:1615791 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1885G>A (p.Val629Met) single nucleotide variant not provided [RCV001879709] Chr19:1611787 [GRCh38]
Chr19:1611786 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1127G>T (p.Gly376Val) single nucleotide variant not provided [RCV001955432] Chr19:1619820 [GRCh38]
Chr19:1619819 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.122C>T (p.Ala41Val) single nucleotide variant not provided [RCV001976497] Chr19:1646378 [GRCh38]
Chr19:1646377 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1504A>G (p.Lys502Glu) single nucleotide variant not provided [RCV001904938] Chr19:1615768 [GRCh38]
Chr19:1615767 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.599A>G (p.Tyr200Cys) single nucleotide variant not provided [RCV001955334] Chr19:1622366 [GRCh38]
Chr19:1622365 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.678G>C (p.Glu226Asp) single nucleotide variant not provided [RCV002017237] Chr19:1622198 [GRCh38]
Chr19:1622197 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.226A>T (p.Ser76Cys) single nucleotide variant not provided [RCV002017601] Chr19:1632110 [GRCh38]
Chr19:1632109 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.779G>T (p.Gly260Val) single nucleotide variant not provided [RCV002017369] Chr19:1622097 [GRCh38]
Chr19:1622096 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.468C>A (p.Ser156Arg) single nucleotide variant not provided [RCV002019207] Chr19:1625607 [GRCh38]
Chr19:1625606 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1525T>A (p.Ser509Thr) single nucleotide variant not provided [RCV001981206] Chr19:1615747 [GRCh38]
Chr19:1615746 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.136G>T (p.Gly46Ter) single nucleotide variant not provided [RCV001960733] Chr19:1646364 [GRCh38]
Chr19:1646363 [GRCh37]
Chr19:19p13.3
pathogenic
NM_003200.5(TCF3):c.892G>A (p.Gly298Arg) single nucleotide variant not provided [RCV001961477] Chr19:1621901 [GRCh38]
Chr19:1621900 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.859C>T (p.Leu287Phe) single nucleotide variant not provided [RCV002018083] Chr19:1621934 [GRCh38]
Chr19:1621933 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1331dup (p.Gly445fs) duplication not provided [RCV001906671] Chr19:1619229..1619230 [GRCh38]
Chr19:1619228..1619229 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1181A>G (p.Glu394Gly) single nucleotide variant not provided [RCV001907269] Chr19:1619461 [GRCh38]
Chr19:1619460 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1951G>A (p.Ala651Thr) single nucleotide variant not provided [RCV001886251] Chr19:1611721 [GRCh38]
Chr19:1611720 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1513G>A (p.Glu505Lys) single nucleotide variant not provided [RCV001931304] Chr19:1615759 [GRCh38]
Chr19:1615758 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.503C>T (p.Thr168Met) single nucleotide variant not provided [RCV001971949] Chr19:1623997 [GRCh38]
Chr19:1623996 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1459C>T (p.Arg487Ter) single nucleotide variant not provided [RCV001990122] Chr19:1615813 [GRCh38]
Chr19:1615812 [GRCh37]
Chr19:19p13.3
pathogenic
NM_003200.5(TCF3):c.697C>G (p.Gln233Glu) single nucleotide variant not provided [RCV002029181] Chr19:1622179 [GRCh38]
Chr19:1622178 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1618C>A (p.Pro540Thr) single nucleotide variant not provided [RCV002027366] Chr19:1615489 [GRCh38]
Chr19:1615488 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1954G>A (p.Gly652Arg) single nucleotide variant not provided [RCV001990242] Chr19:1611718 [GRCh38]
Chr19:1611717 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1213C>T (p.Arg405Cys) single nucleotide variant not provided [RCV001937474] Chr19:1619429 [GRCh38]
Chr19:1619428 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.581G>A (p.Gly194Asp) single nucleotide variant not provided [RCV002029198] Chr19:1622384 [GRCh38]
Chr19:1622383 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.878T>C (p.Phe293Ser) single nucleotide variant not provided [RCV001932687] Chr19:1621915 [GRCh38]
Chr19:1621914 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.348C>T (p.Gly116=) single nucleotide variant not provided [RCV001992295] Chr19:1627377 [GRCh38]
Chr19:1627376 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.451C>T (p.Pro151Ser) single nucleotide variant not provided [RCV001995320] Chr19:1625624 [GRCh38]
Chr19:1625623 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1214G>A (p.Arg405His) single nucleotide variant not provided [RCV001953372] Chr19:1619428 [GRCh38]
Chr19:1619427 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003200.5(TCF3):c.1356C>T (p.Leu452=) single nucleotide variant not provided [RCV002169539] Chr19:1619205 [GRCh38]
Chr19:1619204 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.937G>A (p.Gly313Arg) single nucleotide variant not provided [RCV002105350] Chr19:1621856 [GRCh38]
Chr19:1621855 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1539C>T (p.His513=) single nucleotide variant not provided [RCV002164960] Chr19:1615733 [GRCh38]
Chr19:1615732 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.652+19G>T single nucleotide variant not provided [RCV002188672] Chr19:1622294 [GRCh38]
Chr19:1622293 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-584C>T single nucleotide variant not provided [RCV002208362] Chr19:1612433 [GRCh38]
Chr19:1612432 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.594C>T (p.Thr198=) single nucleotide variant not provided [RCV002110532] Chr19:1622371 [GRCh38]
Chr19:1622370 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1167+11G>T single nucleotide variant not provided [RCV002166176] Chr19:1619769 [GRCh38]
Chr19:1619768 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1451-11G>A single nucleotide variant not provided [RCV002166379] Chr19:1615832 [GRCh38]
Chr19:1615831 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1587-17C>T single nucleotide variant not provided [RCV002207689] Chr19:1615537 [GRCh38]
Chr19:1615536 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.96C>T (p.Asn32=) single nucleotide variant not provided [RCV002208887] Chr19:1646404 [GRCh38]
Chr19:1646403 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1093+17G>C single nucleotide variant not provided [RCV002089362] Chr19:1620951 [GRCh38]
Chr19:1620950 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.561C>T (p.Pro187=) single nucleotide variant not provided [RCV002086030] Chr19:1622404 [GRCh38]
Chr19:1622403 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.145+11G>A single nucleotide variant not provided [RCV002186472] Chr19:1646344 [GRCh38]
Chr19:1646343 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.652+11G>A single nucleotide variant not provided [RCV002190751] Chr19:1622302 [GRCh38]
Chr19:1622301 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1587-13G>A single nucleotide variant not provided [RCV002168508] Chr19:1615533 [GRCh38]
Chr19:1615532 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1168-5T>C single nucleotide variant not provided [RCV002170216] Chr19:1619479 [GRCh38]
Chr19:1619478 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.73-10C>T single nucleotide variant not provided [RCV002084898] Chr19:1646437 [GRCh38]
Chr19:1646436 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-406C>T single nucleotide variant not provided [RCV002126261] Chr19:1612255 [GRCh38]
Chr19:1612254 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1170G>A (p.Gln390=) single nucleotide variant not provided [RCV002168972] Chr19:1619472 [GRCh38]
Chr19:1619471 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.549+11C>T single nucleotide variant not provided [RCV002125980] Chr19:1623940 [GRCh38]
Chr19:1623939 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1167+15C>T single nucleotide variant not provided [RCV002127443] Chr19:1619765 [GRCh38]
Chr19:1619764 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1461A>T (p.Arg487=) single nucleotide variant not provided [RCV002091275] Chr19:1615811 [GRCh38]
Chr19:1615810 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.366+17G>A single nucleotide variant not provided [RCV002129622] Chr19:1627342 [GRCh38]
Chr19:1627341 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1327-8G>A single nucleotide variant not provided [RCV002108288] Chr19:1619242 [GRCh38]
Chr19:1619241 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-510G>A single nucleotide variant not provided [RCV002089755] Chr19:1612359 [GRCh38]
Chr19:1612358 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1015-5C>T single nucleotide variant not provided [RCV002075104] Chr19:1621051 [GRCh38]
Chr19:1621050 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.550-20dup duplication not provided [RCV002129659] Chr19:1622434..1622435 [GRCh38]
Chr19:1622433..1622434 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1587-16G>A single nucleotide variant not provided [RCV002148820] Chr19:1615536 [GRCh38]
Chr19:1615535 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1476G>A (p.Ala492=) single nucleotide variant not provided [RCV002108750] Chr19:1615796 [GRCh38]
Chr19:1615795 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1167+15del deletion not provided [RCV002125911] Chr19:1619765 [GRCh38]
Chr19:1619764 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1599C>T (p.Asp533=) single nucleotide variant not provided [RCV002145680] Chr19:1615508 [GRCh38]
Chr19:1615507 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1203C>A (p.Ile401=) single nucleotide variant not provided [RCV002126123] Chr19:1619439 [GRCh38]
Chr19:1619438 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1093+17G>A single nucleotide variant not provided [RCV002127369] Chr19:1620951 [GRCh38]
Chr19:1620950 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1823-578G>A single nucleotide variant not provided [RCV002206560] Chr19:1612427 [GRCh38]
Chr19:1612426 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.219+13G>C single nucleotide variant not provided [RCV002191079] Chr19:1632319 [GRCh38]
Chr19:1632318 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.73-6del deletion not provided [RCV002147624] Chr19:1646433 [GRCh38]
Chr19:1646432 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1593C>T (p.Asp531=) single nucleotide variant not provided [RCV002189808] Chr19:1615514 [GRCh38]
Chr19:1615513 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1125C>T (p.Pro375=) single nucleotide variant not provided [RCV002128954] Chr19:1619822 [GRCh38]
Chr19:1619821 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1438G>A (p.Asp480Asn) single nucleotide variant not provided [RCV002146484] Chr19:1619123 [GRCh38]
Chr19:1619122 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.669C>G (p.Pro223=) single nucleotide variant not provided [RCV002169292] Chr19:1622207 [GRCh38]
Chr19:1622206 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.146-10C>T single nucleotide variant not provided [RCV002107018] Chr19:1632415 [GRCh38]
Chr19:1632414 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1044C>T (p.Asn348=) single nucleotide variant not provided [RCV002084678] Chr19:1621017 [GRCh38]
Chr19:1621016 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1167+16G>A single nucleotide variant not provided [RCV002114575] Chr19:1619764 [GRCh38]
Chr19:1619763 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.220-15C>A single nucleotide variant not provided [RCV002135337] Chr19:1632131 [GRCh38]
Chr19:1632130 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1451-14T>C single nucleotide variant not provided [RCV002131252] Chr19:1615835 [GRCh38]
Chr19:1615834 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1093+10G>A single nucleotide variant not provided [RCV002186927] Chr19:1620958 [GRCh38]
Chr19:1620957 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.146-15C>T single nucleotide variant not provided [RCV002167245] Chr19:1632420 [GRCh38]
Chr19:1632419 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-434G>A single nucleotide variant not provided [RCV002130669] Chr19:1612283 [GRCh38]
Chr19:1612282 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-498G>A single nucleotide variant not provided [RCV002080303] Chr19:1612347 [GRCh38]
Chr19:1612346 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.462C>T (p.Ser154=) single nucleotide variant not provided [RCV002093162] Chr19:1625613 [GRCh38]
Chr19:1625612 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.145+10C>T single nucleotide variant not provided [RCV002095062] Chr19:1646345 [GRCh38]
Chr19:1646344 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.823-13C>T single nucleotide variant not provided [RCV002144868] Chr19:1621983 [GRCh38]
Chr19:1621982 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1093+15_1093+48del deletion not provided [RCV002146483] Chr19:1620920..1620953 [GRCh38]
Chr19:1620919..1620952 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1479C>T (p.Ala493=) single nucleotide variant not provided [RCV002190230] Chr19:1615793 [GRCh38]
Chr19:1615792 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.367-13C>T single nucleotide variant not provided [RCV002150584] Chr19:1625721 [GRCh38]
Chr19:1625720 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1167+10_1167+14dup duplication not provided [RCV002135220] Chr19:1619765..1619766 [GRCh38]
Chr19:1619764..1619765 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1327-19C>T single nucleotide variant not provided [RCV002148507] Chr19:1619253 [GRCh38]
Chr19:1619252 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.105C>T (p.Gly35=) single nucleotide variant not provided [RCV002215750] Chr19:1646395 [GRCh38]
Chr19:1646394 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.136G>A (p.Gly46Arg) single nucleotide variant Agammaglobulinemia 8, autosomal dominant [RCV002227293]|not provided [RCV002073709] Chr19:1646364 [GRCh38]
Chr19:1646363 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.486A>G (p.Ala162=) single nucleotide variant not provided [RCV002172982] Chr19:1625589 [GRCh38]
Chr19:1625588 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-376C>T single nucleotide variant not provided [RCV002135260] Chr19:1612225 [GRCh38]
Chr19:1612224 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.499+10G>A single nucleotide variant not provided [RCV002151733] Chr19:1625566 [GRCh38]
Chr19:1625565 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1094-18G>A single nucleotide variant not provided [RCV002151019] Chr19:1619871 [GRCh38]
Chr19:1619870 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.579C>T (p.Tyr193=) single nucleotide variant not provided [RCV002115380] Chr19:1622386 [GRCh38]
Chr19:1622385 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1094-13C>T single nucleotide variant not provided [RCV002133361] Chr19:1619866 [GRCh38]
Chr19:1619865 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1125C>A (p.Pro375=) single nucleotide variant not provided [RCV002196540] Chr19:1619822 [GRCh38]
Chr19:1619821 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.955+9C>T single nucleotide variant not provided [RCV002174114] Chr19:1621829 [GRCh38]
Chr19:1621828 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1168-16T>C single nucleotide variant not provided [RCV002153841] Chr19:1619490 [GRCh38]
Chr19:1619489 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.220-11A>G single nucleotide variant not provided [RCV002212970] Chr19:1632127 [GRCh38]
Chr19:1632126 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1950C>T (p.Pro650=) single nucleotide variant not provided [RCV002115513] Chr19:1611722 [GRCh38]
Chr19:1611721 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1512C>T (p.Asp504=) single nucleotide variant not provided [RCV002115719] Chr19:1615760 [GRCh38]
Chr19:1615759 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1239C>T (p.Gly413=) single nucleotide variant not provided [RCV002130647] Chr19:1619403 [GRCh38]
Chr19:1619402 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-513C>T single nucleotide variant not provided [RCV002151704] Chr19:1612362 [GRCh38]
Chr19:1612361 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1586+21A>C single nucleotide variant not provided [RCV002115847] Chr19:1615665 [GRCh38]
Chr19:1615664 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.298+17G>T single nucleotide variant not provided [RCV002130759] Chr19:1632021 [GRCh38]
Chr19:1632020 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1586+18G>A single nucleotide variant not provided [RCV002185237] Chr19:1615668 [GRCh38]
Chr19:1615667 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-11C>T single nucleotide variant not provided [RCV002144829] Chr19:1611860 [GRCh38]
Chr19:1611859 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.220-4C>A single nucleotide variant not provided [RCV002194848] Chr19:1632120 [GRCh38]
Chr19:1632119 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1167+10T>C single nucleotide variant not provided [RCV002116434] Chr19:1619770 [GRCh38]
Chr19:1619769 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.72+17G>C single nucleotide variant not provided [RCV002194181] Chr19:1650160 [GRCh38]
Chr19:1650159 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1317C>T (p.His439=) single nucleotide variant not provided [RCV002094182] Chr19:1619325 [GRCh38]
Chr19:1619324 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-579C>T single nucleotide variant not provided [RCV002133871] Chr19:1612428 [GRCh38]
Chr19:1612427 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1823-442C>T single nucleotide variant not provided [RCV002174320] Chr19:1612291 [GRCh38]
Chr19:1612290 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-515C>T single nucleotide variant not provided [RCV002171849] Chr19:1612364 [GRCh38]
Chr19:1612363 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1350C>T (p.Asp450=) single nucleotide variant not provided [RCV002079648] Chr19:1619211 [GRCh38]
Chr19:1619210 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1093+17G>T single nucleotide variant not provided [RCV002173759] Chr19:1620951 [GRCh38]
Chr19:1620950 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-566G>T single nucleotide variant not provided [RCV002169528] Chr19:1612415 [GRCh38]
Chr19:1612414 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.54C>T (p.Asp18=) single nucleotide variant not provided [RCV002194365] Chr19:1650195 [GRCh38]
Chr19:1650194 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.675C>T (p.Ala225=) single nucleotide variant not provided [RCV002114797] Chr19:1622201 [GRCh38]
Chr19:1622200 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.550-4G>A single nucleotide variant not provided [RCV002214931] Chr19:1622419 [GRCh38]
Chr19:1622418 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1094-11C>T single nucleotide variant not provided [RCV002108751] Chr19:1619864 [GRCh38]
Chr19:1619863 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-472C>A single nucleotide variant not provided [RCV002189236] Chr19:1612321 [GRCh38]
Chr19:1612320 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-400C>T single nucleotide variant not provided [RCV002172021] Chr19:1612249 [GRCh38]
Chr19:1612248 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1935C>T (p.Ser645=) single nucleotide variant not provided [RCV002152064] Chr19:1611737 [GRCh38]
Chr19:1611736 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.531G>C (p.Pro177=) single nucleotide variant not provided [RCV002145584] Chr19:1623969 [GRCh38]
Chr19:1623968 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.823-3dup duplication not provided [RCV002193886] Chr19:1621972..1621973 [GRCh38]
Chr19:1621971..1621972 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1823-600C>T single nucleotide variant not provided [RCV002215803] Chr19:1612449 [GRCh38]
Chr19:1612448 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.270A>G (p.Ser90=) single nucleotide variant not provided [RCV002206169] Chr19:1632066 [GRCh38]
Chr19:1632065 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.228C>T (p.Ser76=) single nucleotide variant not provided [RCV002150879] Chr19:1632108 [GRCh38]
Chr19:1632107 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1206C>T (p.His402=) single nucleotide variant not provided [RCV002201411] Chr19:1619436 [GRCh38]
Chr19:1619435 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1413C>T (p.Thr471=) single nucleotide variant not provided [RCV002180794] Chr19:1619148 [GRCh38]
Chr19:1619147 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.288G>A (p.Pro96=) single nucleotide variant not provided [RCV002179122] Chr19:1632048 [GRCh38]
Chr19:1632047 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1683G>T (p.Arg561=) single nucleotide variant not provided [RCV002181024] Chr19:1615424 [GRCh38]
Chr19:1615423 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1386C>T (p.His462=) single nucleotide variant not provided [RCV002197915] Chr19:1619175 [GRCh38]
Chr19:1619174 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.645C>T (p.Tyr215=) single nucleotide variant not provided [RCV002135755] Chr19:1622320 [GRCh38]
Chr19:1622319 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.807C>T (p.His269=) single nucleotide variant not provided [RCV002119581] Chr19:1622069 [GRCh38]
Chr19:1622068 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.550-8G>T single nucleotide variant not provided [RCV002121593] Chr19:1622423 [GRCh38]
Chr19:1622422 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1587-10C>T single nucleotide variant not provided [RCV002204286] Chr19:1615530 [GRCh38]
Chr19:1615529 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-12C>A single nucleotide variant not provided [RCV002141951] Chr19:1611861 [GRCh38]
Chr19:1611860 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.652+20C>T single nucleotide variant not provided [RCV002182068] Chr19:1622293 [GRCh38]
Chr19:1622292 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-425G>T single nucleotide variant not provided [RCV002118657] Chr19:1612274 [GRCh38]
Chr19:1612273 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1431G>C (p.Arg477=) single nucleotide variant not provided [RCV002217769] Chr19:1619130 [GRCh38]
Chr19:1619129 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.507G>A (p.Gln169=) single nucleotide variant not provided [RCV002199110] Chr19:1623993 [GRCh38]
Chr19:1623992 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1014+20G>C single nucleotide variant not provided [RCV002155342] Chr19:1621113 [GRCh38]
Chr19:1621112 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.298+20C>T single nucleotide variant not provided [RCV002140678] Chr19:1632018 [GRCh38]
Chr19:1632017 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.258C>T (p.Ser86=) single nucleotide variant not provided [RCV002142621] Chr19:1632078 [GRCh38]
Chr19:1632077 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.550-18C>A single nucleotide variant not provided [RCV002199673] Chr19:1622433 [GRCh38]
Chr19:1622432 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-434G>C single nucleotide variant not provided [RCV002181047] Chr19:1612283 [GRCh38]
Chr19:1612282 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.666C>T (p.His222=) single nucleotide variant not provided [RCV002159849] Chr19:1622210 [GRCh38]
Chr19:1622209 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1587-14C>T single nucleotide variant not provided [RCV002154061] Chr19:1615534 [GRCh38]
Chr19:1615533 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-347C>T single nucleotide variant not provided [RCV002154235] Chr19:1612196 [GRCh38]
Chr19:1612195 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.192G>A (p.Gln64=) single nucleotide variant not provided [RCV002119755] Chr19:1632359 [GRCh38]
Chr19:1632358 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1093+18G>A single nucleotide variant not provided [RCV002156227] Chr19:1620950 [GRCh38]
Chr19:1620949 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1167+17_1167+18insCGCCACCCCA insertion not provided [RCV002179409] Chr19:1619762..1619763 [GRCh38]
Chr19:1619761..1619762 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-425G>A single nucleotide variant not provided [RCV002143159] Chr19:1612274 [GRCh38]
Chr19:1612273 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.366+12G>A single nucleotide variant not provided [RCV002137758] Chr19:1627347 [GRCh38]
Chr19:1627346 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1623G>A (p.Glu541=) single nucleotide variant not provided [RCV002154365] Chr19:1615484 [GRCh38]
Chr19:1615483 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.735C>T (p.Ser245=) single nucleotide variant not provided [RCV002123907] Chr19:1622141 [GRCh38]
Chr19:1622140 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1940C>G (p.Ala647Gly) single nucleotide variant not provided [RCV002120274] Chr19:1611732 [GRCh38]
Chr19:1611731 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1822+14C>T single nucleotide variant not provided [RCV002124232] Chr19:1615271 [GRCh38]
Chr19:1615270 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.219+12C>T single nucleotide variant not provided [RCV002143606] Chr19:1632320 [GRCh38]
Chr19:1632319 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.367-18C>T single nucleotide variant not provided [RCV002176150] Chr19:1625726 [GRCh38]
Chr19:1625725 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.808C>T (p.Gln270Ter) single nucleotide variant AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE [RCV002221970] Chr19:1622068 [GRCh38]
Chr19:1622067 [GRCh37]
Chr19:19p13.3
pathogenic
TCF3, EX5-11 DEL deletion AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE [RCV002221971]   pathogenic
NM_003200.5(TCF3):c.1290C>T (p.Thr430=) single nucleotide variant not provided [RCV002164147] Chr19:1619352 [GRCh38]
Chr19:1619351 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.956-16C>T single nucleotide variant not provided [RCV002136667] Chr19:1621207 [GRCh38]
Chr19:1621206 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.500-16del deletion not provided [RCV002142373] Chr19:1624016 [GRCh38]
Chr19:1624015 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1823-431C>T single nucleotide variant not provided [RCV002164452] Chr19:1612280 [GRCh38]
Chr19:1612279 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.653-4A>G single nucleotide variant not provided [RCV002204431] Chr19:1622227 [GRCh38]
Chr19:1622226 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1168-4G>A single nucleotide variant not provided [RCV002137274] Chr19:1619478 [GRCh38]
Chr19:1619477 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.956-5C>A single nucleotide variant not provided [RCV002155937] Chr19:1621196 [GRCh38]
Chr19:1621195 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-598G>A single nucleotide variant not provided [RCV002159122] Chr19:1612447 [GRCh38]
Chr19:1612446 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1586+17C>T single nucleotide variant not provided [RCV002201468] Chr19:1615669 [GRCh38]
Chr19:1615668 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.822+13del deletion not provided [RCV002140481] Chr19:1622041 [GRCh38]
Chr19:1622040 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1094-7C>A single nucleotide variant not provided [RCV002083435] Chr19:1619860 [GRCh38]
Chr19:1619859 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1822+13G>A single nucleotide variant not provided [RCV002161189] Chr19:1615272 [GRCh38]
Chr19:1615271 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.145+20C>T single nucleotide variant not provided [RCV002102074] Chr19:1646335 [GRCh38]
Chr19:1646334 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.426C>T (p.Gly142=) single nucleotide variant not provided [RCV002175887] Chr19:1625649 [GRCh38]
Chr19:1625648 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1327-16C>T single nucleotide variant not provided [RCV002154572] Chr19:1619250 [GRCh38]
Chr19:1619249 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1587-4A>G single nucleotide variant not provided [RCV002123685] Chr19:1615524 [GRCh38]
Chr19:1615523 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.299-15C>T single nucleotide variant not provided [RCV002158707] Chr19:1627441 [GRCh38]
Chr19:1627440 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1389G>A (p.Ala463=) single nucleotide variant not provided [RCV002137264] Chr19:1619172 [GRCh38]
Chr19:1619171 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.636C>A (p.Ala212=) single nucleotide variant not provided [RCV002123084] Chr19:1622329 [GRCh38]
Chr19:1622328 [GRCh37]
Chr19:19p13.3
benign
NM_003200.5(TCF3):c.1450+10_1450+16dup duplication not provided [RCV002153895] Chr19:1619094..1619095 [GRCh38]
Chr19:1619093..1619094 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1266C>T (p.His422=) single nucleotide variant not provided [RCV002135744] Chr19:1619376 [GRCh38]
Chr19:1619375 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.187G>A (p.Asp63Asn) single nucleotide variant not provided [RCV002179278] Chr19:1632364 [GRCh38]
Chr19:1632363 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.135C>T (p.Phe45=) single nucleotide variant not provided [RCV002081702] Chr19:1646365 [GRCh38]
Chr19:1646364 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.823-8C>T single nucleotide variant not provided [RCV002098539] Chr19:1621978 [GRCh38]
Chr19:1621977 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1791G>A (p.Ser597=) single nucleotide variant not provided [RCV002202097] Chr19:1615316 [GRCh38]
Chr19:1615315 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.984C>T (p.Ser328=) single nucleotide variant not provided [RCV002200475] Chr19:1621163 [GRCh38]
Chr19:1621162 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1167+20C>T single nucleotide variant not provided [RCV002203649] Chr19:1619760 [GRCh38]
Chr19:1619759 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-346G>C single nucleotide variant not provided [RCV002123817] Chr19:1612195 [GRCh38]
Chr19:1612194 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1080C>A (p.Pro360=) single nucleotide variant not provided [RCV002098594] Chr19:1620981 [GRCh38]
Chr19:1620980 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1327-4G>A single nucleotide variant not provided [RCV002156547] Chr19:1619238 [GRCh38]
Chr19:1619237 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.357C>T (p.Gly119=) single nucleotide variant not provided [RCV002160402] Chr19:1627368 [GRCh38]
Chr19:1627367 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1422C>A (p.Asp474Glu) single nucleotide variant not provided [RCV002203903] Chr19:1619139 [GRCh38]
Chr19:1619138 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-473C>T single nucleotide variant not provided [RCV002138097] Chr19:1612322 [GRCh38]
Chr19:1612321 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1737C>T (p.His579=) single nucleotide variant not provided [RCV002181927] Chr19:1615370 [GRCh38]
Chr19:1615369 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1050G>A (p.Ser350=) single nucleotide variant not provided [RCV002141982] Chr19:1621011 [GRCh38]
Chr19:1621010 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-575C>T single nucleotide variant not provided [RCV002184236] Chr19:1612424 [GRCh38]
Chr19:1612423 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1450+14C>G single nucleotide variant not provided [RCV002178787] Chr19:1619097 [GRCh38]
Chr19:1619096 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1823-460C>T single nucleotide variant not provided [RCV002204461] Chr19:1612309 [GRCh38]
Chr19:1612308 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1094-19C>T single nucleotide variant not provided [RCV002217997] Chr19:1619872 [GRCh38]
Chr19:1619871 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.1167+11G>C single nucleotide variant not provided [RCV002202720] Chr19:1619769 [GRCh38]
Chr19:1619768 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.996C>T (p.Leu332=) single nucleotide variant not provided [RCV002184661] Chr19:1621151 [GRCh38]
Chr19:1621150 [GRCh37]
Chr19:19p13.3
likely benign
NM_003200.5(TCF3):c.145+11G>T single nucleotide variant not provided [RCV002201478] Chr19:1646344 [GRCh38]
Chr19:1646343 [GRCh37]
Chr19:19p13.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11633 AgrOrtholog
COSMIC TCF3 COSMIC
Ensembl Genes ENSG00000071564 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000262965 ENTREZGENE
  ENSP00000262965.5 UniProtKB/Swiss-Prot
  ENSP00000344375.6 UniProtKB/TrEMBL
  ENSP00000378813 ENTREZGENE
  ENSP00000378813.3 UniProtKB/Swiss-Prot
  ENSP00000396363 ENTREZGENE
  ENSP00000396363.3 UniProtKB/TrEMBL
  ENSP00000465251.1 UniProtKB/TrEMBL
  ENSP00000465481.1 UniProtKB/TrEMBL
  ENSP00000465510.2 UniProtKB/TrEMBL
  ENSP00000465549.1 UniProtKB/TrEMBL
  ENSP00000466052.3 UniProtKB/TrEMBL
  ENSP00000466565.2 UniProtKB/TrEMBL
  ENSP00000466952.2 UniProtKB/TrEMBL
  ENSP00000466954.1 UniProtKB/TrEMBL
  ENSP00000467388.2 UniProtKB/TrEMBL
  ENSP00000467508.2 UniProtKB/TrEMBL
  ENSP00000467972.1 UniProtKB/TrEMBL
  ENSP00000468481.1 UniProtKB/TrEMBL
  ENSP00000468487 ENTREZGENE
  ENSP00000468487.1 UniProtKB/Swiss-Prot
  ENSP00000480564.2 UniProtKB/Swiss-Prot
  ENSP00000499183.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000262965 ENTREZGENE
  ENST00000262965.12 UniProtKB/Swiss-Prot
  ENST00000344749.9 UniProtKB/TrEMBL
  ENST00000395423 ENTREZGENE
  ENST00000395423.7 UniProtKB/Swiss-Prot
  ENST00000453954 ENTREZGENE
  ENST00000453954.6 UniProtKB/TrEMBL
  ENST00000585731.5 UniProtKB/TrEMBL
  ENST00000585855.2 UniProtKB/TrEMBL
  ENST00000586164.1 UniProtKB/TrEMBL
  ENST00000586318.1 UniProtKB/TrEMBL
  ENST00000586410.2 UniProtKB/TrEMBL
  ENST00000587235.6 UniProtKB/TrEMBL
  ENST00000587425.5 UniProtKB/TrEMBL
  ENST00000588136 ENTREZGENE
  ENST00000588136.7 UniProtKB/Swiss-Prot
  ENST00000590436.5 UniProtKB/TrEMBL
  ENST00000590684.5 UniProtKB/TrEMBL
  ENST00000592395.5 UniProtKB/TrEMBL
  ENST00000592628.5 UniProtKB/TrEMBL
  ENST00000593064.5 UniProtKB/TrEMBL
  ENST00000611869.5 UniProtKB/Swiss-Prot
  ENST00000651991.1 UniProtKB/TrEMBL
Gene3D-CATH 4.10.280.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000071564 GTEx
HGNC ID HGNC:11633 ENTREZGENE
Human Proteome Map TCF3 Human Proteome Map
InterPro bHLH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HLH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6929 UniProtKB/Swiss-Prot
NCBI Gene 6929 ENTREZGENE
OMIM 147141 OMIM
  616941 OMIM
  619824 OMIM
Pfam HLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164742580 PharmGKB
PROSITE BHLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47459 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MRB7 ENTREZGENE, UniProtKB/TrEMBL
  A0A0A0MTS0_HUMAN UniProtKB/TrEMBL
  A0A494C1R3_HUMAN UniProtKB/TrEMBL
  K7EJN4_HUMAN UniProtKB/TrEMBL
  K7EK65_HUMAN UniProtKB/TrEMBL
  K7EKB9_HUMAN UniProtKB/TrEMBL
  K7ELF3_HUMAN UniProtKB/TrEMBL
  K7EMM4_HUMAN UniProtKB/TrEMBL
  K7ENH8_HUMAN UniProtKB/TrEMBL
  K7ENI0_HUMAN UniProtKB/TrEMBL
  K7EPH6_HUMAN UniProtKB/TrEMBL
  K7EPS2_HUMAN UniProtKB/TrEMBL
  K7ERZ7_HUMAN UniProtKB/TrEMBL
  L0R8G9_HUMAN UniProtKB/TrEMBL
  P15923 ENTREZGENE
  Q6PJU3_HUMAN UniProtKB/TrEMBL
  Q9UPI9 ENTREZGENE
  TFE2_HUMAN UniProtKB/Swiss-Prot
  U5LXR9_HUMAN UniProtKB/TrEMBL
  X6REB3_HUMAN UniProtKB/TrEMBL
UniProt Secondary P15883 UniProtKB/Swiss-Prot
  Q14208 UniProtKB/Swiss-Prot
  Q14635 UniProtKB/Swiss-Prot
  Q14636 UniProtKB/Swiss-Prot
  Q2TB39 UniProtKB/Swiss-Prot
  Q2TB40 UniProtKB/Swiss-Prot
  Q9UPI9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-03-06 TCF3  transcription factor 3    transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)  Symbol and/or name change 5135510 APPROVED