CD3E (CD3 epsilon subunit of T-cell receptor complex) - Rat Genome Database

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Pathways
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Gene: CD3E (CD3 epsilon subunit of T-cell receptor complex) Homo sapiens
Analyze
Symbol: CD3E
Name: CD3 epsilon subunit of T-cell receptor complex
RGD ID: 1319442
HGNC Page HGNC:1674
Description: Enables SH3 domain binding activity and identical protein binding activity. Involved in negative regulation of gene expression; positive regulation of T cell proliferation; and positive regulation of gene expression. Located in Golgi apparatus; endoplasmic reticulum; and external side of plasma membrane. Part of alpha-beta T cell receptor complex. Implicated in immunodeficiency 18. Biomarker of severe acute respiratory syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CD3-epsilon; CD3e antigen, epsilon polypeptide (TiT3 complex); CD3e molecule; CD3e molecule, epsilon (CD3-TCR complex); CD3epsilon; FLJ18683; IMD18; T-cell antigen receptor complex, epsilon subunit of T3; T-cell surface antigen T3/Leu-4 epsilon chain; T-cell surface glycoprotein CD3 epsilon chain; T3E; TCRE
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811118,304,730 - 118,316,173 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11118,304,730 - 118,316,175 (+)EnsemblGRCh38hg38GRCh38
GRCh3711118,175,445 - 118,186,888 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611117,680,662 - 117,692,100 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411117,680,661 - 117,692,099NCBI
Celera11115,333,175 - 115,344,768 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11114,108,889 - 114,120,482 (+)NCBIHuRef
CHM1_111118,061,293 - 118,072,876 (+)NCBICHM1_1
T2T-CHM13v2.011118,321,077 - 118,332,497 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adaptive immune response  (IEA,NAS)
alpha-beta T cell activation  (NAS)
apoptotic signaling pathway  (IEA,ISO)
calcium-mediated signaling  (IEA,ISO)
CD4-positive, alpha-beta T cell proliferation  (IEA,ISO)
cell surface receptor protein tyrosine kinase signaling pathway  (TAS)
cell surface receptor signaling pathway  (IBA,IC,IEA,ISO,NAS)
cerebellum development  (IEA)
dendrite development  (IEA)
G protein-coupled receptor signaling pathway  (TAS)
gamma-delta T cell activation  (NAS)
lymphocyte activation  (IEA,ISO)
negative regulation of gene expression  (IMP)
negative regulation of smoothened signaling pathway  (IEA,ISO)
negative thymic T cell selection  (IEA,ISO)
positive regulation of calcium-mediated signaling  (IEA,ISO)
positive regulation of CD4-positive, alpha-beta T cell proliferation  (IEA,ISO)
positive regulation of cell-cell adhesion mediated by integrin  (IEA,ISS)
positive regulation of cell-matrix adhesion  (IEA,ISS)
positive regulation of gene expression  (IMP)
positive regulation of interleukin-2 production  (IEA,ISO)
positive regulation of interleukin-4 production  (IEA,ISO)
positive regulation of peptidyl-tyrosine phosphorylation  (IEA,ISO)
positive regulation of T cell activation  (IEA,ISO)
positive regulation of T cell anergy  (IEA,ISO)
positive regulation of T cell proliferation  (IEA,IMP,ISO)
positive regulation of type II interferon production  (IEA,ISO)
positive thymic T cell selection  (IBA)
protein-containing complex assembly  (NAS)
regulation of apoptotic process  (NAS)
response to nutrient  (ISO)
signal complex assembly  (TAS)
smoothened signaling pathway  (IEA,ISO)
T cell activation  (IEA,ISO,NAS)
T cell anergy  (IEA,ISO)
T cell costimulation  (IEA,ISO)
T cell differentiation in thymus  (ISO)
T cell proliferation  (IEA,ISO)
T cell receptor signaling pathway  (IEA,ISO,NAS)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Anti-CD3 and nasal proinsulin combination therapy enhances remission from recent-onset autoimmune diabetes by inducing Tregs. Bresson D, etal., J Clin Invest. 2006 May;116(5):1371-81. Epub 2006 Apr 20.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Orchitis: a complication of severe acute respiratory syndrome (SARS). Xu J, etal., Biol Reprod. 2006 Feb;74(2):410-6. doi: 10.1095/biolreprod.105.044776. Epub 2005 Oct 19.
Additional References at PubMed
PMID:1370449   PMID:1385321   PMID:1387664   PMID:1671006   PMID:1832084   PMID:1979339   PMID:2111780   PMID:2138083   PMID:2859526   PMID:3012357   PMID:3248386   PMID:3267235  
PMID:3478717   PMID:7499176   PMID:7500045   PMID:7506554   PMID:7514106   PMID:7517794   PMID:7539755   PMID:7541024   PMID:7699329   PMID:7761456   PMID:7774645   PMID:7937778  
PMID:8125527   PMID:8145026   PMID:8176201   PMID:8366117   PMID:8490660   PMID:8530500   PMID:8621646   PMID:8626450   PMID:8647168   PMID:8809126   PMID:8906806   PMID:8920877  
PMID:9045614   PMID:9120393   PMID:9263011   PMID:9312149   PMID:9378960   PMID:9485181   PMID:9510190   PMID:9582308   PMID:9687533   PMID:9698567   PMID:9743208   PMID:9780176  
PMID:9886373   PMID:10373416   PMID:10384095   PMID:10722370   PMID:11048639   PMID:11115514   PMID:11186279   PMID:11349123   PMID:11390434   PMID:11439187   PMID:11689561   PMID:11827988  
PMID:11855827   PMID:12110186   PMID:12410792   PMID:12477932   PMID:12499387   PMID:12522270   PMID:12567487   PMID:12626537   PMID:12652296   PMID:12734335   PMID:12812314   PMID:14523017  
PMID:14757743   PMID:14967045   PMID:15123239   PMID:15144186   PMID:15342556   PMID:15489334   PMID:15489916   PMID:15534202   PMID:15546002   PMID:15592455   PMID:16094384   PMID:16308105  
PMID:16412509   PMID:16418397   PMID:16461343   PMID:16777597   PMID:17001685   PMID:17023417   PMID:17176095   PMID:17213291   PMID:17507663   PMID:17617578   PMID:17630354   PMID:17632570  
PMID:17652306   PMID:17668204   PMID:17928336   PMID:18424730   PMID:18473783   PMID:18504423   PMID:18541215   PMID:18555270   PMID:18555888   PMID:18644376   PMID:18667496   PMID:18808677  
PMID:18955169   PMID:19190244   PMID:19616027   PMID:19724882   PMID:19726522   PMID:19759518   PMID:19913121   PMID:20012528   PMID:20179761   PMID:20237496   PMID:20478055   PMID:20594957  
PMID:20628086   PMID:20824090   PMID:21203507   PMID:21669053   PMID:21669059   PMID:21873635   PMID:21980389   PMID:22401598   PMID:22911005   PMID:23166358   PMID:23216707   PMID:23817958  
PMID:24187576   PMID:24470497   PMID:24495362   PMID:25241761   PMID:25422432   PMID:25467409   PMID:25505066   PMID:25980612   PMID:26109064   PMID:26186194   PMID:26342115   PMID:26828096  
PMID:26888626   PMID:27375898   PMID:27754869   PMID:28514442   PMID:28597365   PMID:28659468   PMID:29789755   PMID:30976362   PMID:31461748   PMID:31659016   PMID:31674657   PMID:32016651  
PMID:32296183   PMID:32730808   PMID:33961781   PMID:35710869  


Genomics

Comparative Map Data
CD3E
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811118,304,730 - 118,316,173 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11118,304,730 - 118,316,175 (+)EnsemblGRCh38hg38GRCh38
GRCh3711118,175,445 - 118,186,888 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611117,680,662 - 117,692,100 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411117,680,661 - 117,692,099NCBI
Celera11115,333,175 - 115,344,768 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11114,108,889 - 114,120,482 (+)NCBIHuRef
CHM1_111118,061,293 - 118,072,876 (+)NCBICHM1_1
T2T-CHM13v2.011118,321,077 - 118,332,497 (+)NCBIT2T-CHM13v2.0
Cd3e
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39944,910,033 - 44,920,961 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl944,910,038 - 44,920,925 (-)EnsemblGRCm39 Ensembl
GRCm38944,998,735 - 45,009,663 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl944,998,740 - 45,009,627 (-)EnsemblGRCm38mm10GRCm38
MGSCv37944,806,826 - 44,817,673 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36944,749,738 - 44,760,585 (-)NCBIMGSCv36mm8
Celera942,267,117 - 42,278,016 (-)NCBICelera
Cytogenetic Map9A5.2NCBI
cM Map924.84NCBI
Cd3e
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8854,200,617 - 54,211,770 (-)NCBIGRCr8
mRatBN7.2845,303,848 - 45,315,005 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl845,303,852 - 45,315,022 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx850,799,452 - 50,810,532 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0849,078,177 - 49,089,271 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0846,948,738 - 46,959,840 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0849,297,604 - 49,309,370 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl849,297,608 - 49,308,806 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0847,915,622 - 47,926,803 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4847,947,257 - 47,958,419 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1847,956,580 - 47,967,075 (-)NCBI
Celera844,888,608 - 44,901,125 (-)NCBICelera
Cytogenetic Map8q22NCBI
Cd3e
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541219,464,613 - 19,478,990 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541219,464,666 - 19,476,425 (+)NCBIChiLan1.0ChiLan1.0
LOC100978919
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29119,008,720 - 119,021,110 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111120,113,724 - 120,126,117 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011113,142,200 - 113,153,928 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111117,074,041 - 117,085,625 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11117,074,041 - 117,085,625 (+)Ensemblpanpan1.1panPan2
CD3E
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1515,403,724 - 15,415,259 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl515,403,710 - 15,415,260 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha515,454,474 - 15,466,079 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0515,346,053 - 15,357,458 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1515,484,300 - 15,495,694 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0515,387,761 - 15,399,158 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0515,428,916 - 15,440,314 (-)NCBIUU_Cfam_GSD_1.0
Cd3e
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947100,410,261 - 100,469,704 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365423,379,361 - 3,390,677 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CD3E
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl945,619,482 - 45,633,968 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1945,619,730 - 45,633,972 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2950,660,852 - 50,675,098 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CD3E
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11109,681,142 - 109,692,835 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1109,681,065 - 109,692,839 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604316,342,046 - 16,353,608 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cd3e
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478413,712,920 - 13,726,950 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478413,714,667 - 13,726,881 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CD3E
230 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000733.4(CD3E):c.498G>A (p.Ala166=) single nucleotide variant Immunodeficiency 18 [RCV000651968]|Severe combined immunodeficiency disease [RCV000029458] Chr11:118313852 [GRCh38]
Chr11:118184567 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000733.4(CD3E):c.507C>T (p.Gly169=) single nucleotide variant Immunodeficiency 18 [RCV000528942]|Severe combined immunodeficiency disease [RCV000029459]|not provided [RCV001650844] Chr11:118313861 [GRCh38]
Chr11:118184576 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_000733.4(CD3E):c.567+65_567+66del deletion Severe combined immunodeficiency disease [RCV000029460] Chr11:118314558..118314559 [GRCh38]
Chr11:118185273..118185274 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.70+4del deletion Severe combined immunodeficiency disease [RCV000029461] Chr11:118307312 [GRCh38]
Chr11:118178027 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.*98_*101dup duplication Severe combined immunodeficiency disease [RCV000029462] Chr11:118315639..118315640 [GRCh38]
Chr11:118186354..118186355 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.323C>T (p.Ala108Val) single nucleotide variant CD3E-related condition [RCV003915624]|Immunodeficiency 18 [RCV000548270] Chr11:118312837 [GRCh38]
Chr11:118183552 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000733.4(CD3E):c.176G>A (p.Trp59Ter) single nucleotide variant Immunodeficiency 18 [RCV000087025] Chr11:118312690 [GRCh38]
Chr11:118183405 [GRCh37]
Chr11:11q23.3		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3		 pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
NM_000733.4(CD3E):c.520+2T>C single nucleotide variant Immunodeficiency 18 [RCV000087024] Chr11:118313876 [GRCh38]
Chr11:118184591 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_000733.4(CD3E):c.128_129del (p.Thr43fs) deletion Immunodeficiency 18, severe combined immunodeficiency variant [RCV000087026] Chr11:118312642..118312643 [GRCh38]
Chr11:118183357..118183358 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000733.4(CD3E):c.104-17C>T single nucleotide variant Immunodeficiency 18 [RCV001509683]|not specified [RCV000124172] Chr11:118312601 [GRCh38]
Chr11:118183316 [GRCh37]
Chr11:11q23.3		 benign
NM_000733.4(CD3E):c.216T>C (p.Asp72=) single nucleotide variant Immunodeficiency 18 [RCV000540188]|not specified [RCV000124173] Chr11:118312730 [GRCh38]
Chr11:118183445 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NC_000011.9:g.(?_117856768)_(118972385_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV001313154]|Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 18 [RCV001338286]|Immunodeficiency 19 [RCV001322413]|Inflammatory bowel disease 28 [RCV001304384] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|conflicting data from submitters
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000733.4(CD3E):c.*48C>A single nucleotide variant Immunodeficiency 18 [RCV000283521]|not provided [RCV001672439] Chr11:118315590 [GRCh38]
Chr11:118186305 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000733.3(CD3E):c.-112G>A single nucleotide variant Immunodeficiency 18 [RCV000370695]|not provided [RCV001612953] Chr11:118304724 [GRCh38]
Chr11:118175439 [GRCh37]
Chr11:11q23.3		 benign
NM_000733.4(CD3E):c.*55C>A single nucleotide variant Immunodeficiency 18 [RCV000347914]|not provided [RCV001690002] Chr11:118315597 [GRCh38]
Chr11:118186312 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000733.4(CD3E):c.-73T>C single nucleotide variant Immunodeficiency 18 [RCV000276221] Chr11:118304763 [GRCh38]
Chr11:118175478 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.73A>G (p.Asn25Asp) single nucleotide variant Immunodeficiency 18 [RCV000385303] Chr11:118308429 [GRCh38]
Chr11:118179144 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.458A>C (p.Lys153Thr) single nucleotide variant Immunodeficiency 18 [RCV000795735] Chr11:118313812 [GRCh38]
Chr11:118184527 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.103C>T (p.Pro35Ser) single nucleotide variant Immunodeficiency 18 [RCV000527609]|not provided [RCV003401294] Chr11:118312170 [GRCh38]
Chr11:118182885 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_000733.4(CD3E):c.*535C>G single nucleotide variant Immunodeficiency 18 [RCV000344204] Chr11:118316077 [GRCh38]
Chr11:118186792 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.54C>T (p.Gly18=) single nucleotide variant Immunodeficiency 18 [RCV000611762]|not provided [RCV001711902]|not specified [RCV000455371] Chr11:118307292 [GRCh38]
Chr11:118178007 [GRCh37]
Chr11:11q23.3		 benign
NM_000733.4(CD3E):c.580G>A (p.Gly194Ser) single nucleotide variant Immunodeficiency 18 [RCV000686372] Chr11:118315498 [GRCh38]
Chr11:118186213 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.211G>C (p.Asp71His) single nucleotide variant Immunodeficiency 18 [RCV000615505]|not provided [RCV001706451] Chr11:118312725 [GRCh38]
Chr11:118183440 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000733.4(CD3E):c.55G>A (p.Val19Ile) single nucleotide variant Immunodeficiency 18 [RCV002527028]|not provided [RCV001696915] Chr11:118307293 [GRCh38]
Chr11:118178008 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000733.4(CD3E):c.*441C>T single nucleotide variant Immunodeficiency 18 [RCV000308224] Chr11:118315983 [GRCh38]
Chr11:118186698 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.3(CD3E):c.-166G>A single nucleotide variant Immunodeficiency 18 [RCV000325470] Chr11:118304670 [GRCh38]
Chr11:118175385 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.470C>T (p.Ala157Val) single nucleotide variant Immunodeficiency 18 [RCV001087697]|not provided [RCV000588064] Chr11:118313824 [GRCh38]
Chr11:118184539 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_000733.4(CD3E):c.353-5C>A single nucleotide variant Immunodeficiency 18 [RCV000651966] Chr11:118313702 [GRCh38]
Chr11:118184417 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000733.4(CD3E):c.49+3G>A single nucleotide variant Immunodeficiency 18 [RCV000651967] Chr11:118305004 [GRCh38]
Chr11:118175719 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_000733.4(CD3E):c.285T>C (p.Tyr95=) single nucleotide variant Immunodeficiency 18 [RCV003825395] Chr11:118312799 [GRCh38]
Chr11:118183514 [GRCh37]
Chr11:11q23.3		 likely benign
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3 copy number gain not provided [RCV000683365] Chr11:116669751..120979377 [GRCh37]
Chr11:11q23.3		 likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_000733.4(CD3E):c.567+10G>T single nucleotide variant Immunodeficiency 18 [RCV000690345] Chr11:118314504 [GRCh38]
Chr11:118185219 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000733.4(CD3E):c.103+1G>T single nucleotide variant Immunodeficiency 18 [RCV000690815] Chr11:118312171 [GRCh38]
Chr11:118182886 [GRCh37]
Chr11:11q23.3		 likely pathogenic
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_000733.4(CD3E):c.86-67G>A single nucleotide variant not provided [RCV001666229]|not specified [RCV003401573] Chr11:118312086 [GRCh38]
Chr11:118182801 [GRCh37]
Chr11:11q23.3		 benign
NM_000733.4(CD3E):c.86-208T>C single nucleotide variant not provided [RCV001667807] Chr11:118311945 [GRCh38]
Chr11:118182660 [GRCh37]
Chr11:11q23.3		 benign
NM_000733.4(CD3E):c.-60+49A>G single nucleotide variant not provided [RCV001535042]|not specified [RCV003399335] Chr11:118304825 [GRCh38]
Chr11:118175540 [GRCh37]
Chr11:11q23.3		 benign
NM_000733.4(CD3E):c.86-39T>A single nucleotide variant not provided [RCV001645353]|not specified [RCV003399446] Chr11:118312114 [GRCh38]
Chr11:118182829 [GRCh37]
Chr11:11q23.3		 benign
NM_000733.4(CD3E):c.17A>C (p.His6Pro) single nucleotide variant Immunodeficiency 18 [RCV001043238] Chr11:118304969 [GRCh38]
Chr11:118175684 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.567+6G>A single nucleotide variant Immunodeficiency 18 [RCV000915259] Chr11:118314500 [GRCh38]
Chr11:118185215 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.103+10T>C single nucleotide variant Immunodeficiency 18 [RCV000921189] Chr11:118312180 [GRCh38]
Chr11:118182895 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity
NM_000733.4(CD3E):c.324G>A (p.Ala108=) single nucleotide variant Immunodeficiency 18 [RCV001408722] Chr11:118312838 [GRCh38]
Chr11:118183553 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.500G>T (p.Gly167Val) single nucleotide variant Immunodeficiency 18 [RCV001061475] Chr11:118313854 [GRCh38]
Chr11:118184569 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.261_262del (p.Ser88fs) deletion Immunodeficiency 18 [RCV001051527] Chr11:118312773..118312774 [GRCh38]
Chr11:118183488..118183489 [GRCh37]
Chr11:11q23.3		 pathogenic
NC_000011.9:g.(?_117856768)_(118972385_?)dup duplication Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 18 [RCV001338286] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.530del (p.Lys177fs) deletion Immunodeficiency 18 [RCV001060614] Chr11:118314456 [GRCh38]
Chr11:118185171 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000733.4(CD3E):c.281G>C (p.Gly94Ala) single nucleotide variant not specified [RCV000780085] Chr11:118312795 [GRCh38]
Chr11:118183510 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.617G>A (p.Arg206His) single nucleotide variant Immunodeficiency 18 [RCV000807671]|Inborn genetic diseases [RCV003243320] Chr11:118315535 [GRCh38]
Chr11:118186250 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.480G>A (p.Lys160=) single nucleotide variant Immunodeficiency 18 [RCV001416234] Chr11:118313834 [GRCh38]
Chr11:118184549 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.298C>A (p.Pro100Thr) single nucleotide variant Immunodeficiency 18 [RCV000801284] Chr11:118312812 [GRCh38]
Chr11:118183527 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.575G>A (p.Arg192Gln) single nucleotide variant Immunodeficiency 18 [RCV000800761] Chr11:118315493 [GRCh38]
Chr11:118186208 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NC_000011.9:g.(?_118007722)_(119170511_?)del deletion Long QT syndrome 10 [RCV000816632] Chr11:118007722..119170511 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.499G>A (p.Gly167Ser) single nucleotide variant Immunodeficiency 18 [RCV000799511] Chr11:118313853 [GRCh38]
Chr11:118184568 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.360G>C (p.Glu120Asp) single nucleotide variant Immunodeficiency 18 [RCV001067122] Chr11:118313714 [GRCh38]
Chr11:118184429 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.297C>T (p.Tyr99=) single nucleotide variant Immunodeficiency 18 [RCV000976119] Chr11:118312811 [GRCh38]
Chr11:118183526 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_117856768)_(118972385_?)del deletion Combined immunodeficiency due to CD3gamma deficiency [RCV001382626]|Immunodeficiency 18 [RCV001389243]|Immunodeficiency 19 [RCV001031688]|Inflammatory bowel disease 28 [RCV001386823] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000733.4(CD3E):c.398T>C (p.Ile133Thr) single nucleotide variant Immunodeficiency 18 [RCV001223897] Chr11:118313752 [GRCh38]
Chr11:118184467 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.202_228del (p.Gly68_Gly76del) deletion Immunodeficiency 18 [RCV001242179] Chr11:118312699..118312725 [GRCh38]
Chr11:118183414..118183440 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_118175668)_(118179176_?)del deletion Immunodeficiency 18 [RCV003105320] Chr11:118175668..118179176 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000733.4(CD3E):c.85+41A>G single nucleotide variant not provided [RCV001713474]|not specified [RCV003401646] Chr11:118308482 [GRCh38]
Chr11:118179197 [GRCh37]
Chr11:11q23.3		 benign
NM_000733.4(CD3E):c.85+44G>A single nucleotide variant not provided [RCV001713476]|not specified [RCV003401647] Chr11:118308485 [GRCh38]
Chr11:118179200 [GRCh37]
Chr11:11q23.3		 benign
NM_000733.4(CD3E):c.42C>A (p.Leu14=) single nucleotide variant not provided [RCV000910839] Chr11:118304994 [GRCh38]
Chr11:118175709 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.51T>G (p.Val17=) single nucleotide variant Immunodeficiency 18 [RCV001499295] Chr11:118307289 [GRCh38]
Chr11:118178004 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.*311C>T single nucleotide variant Immunodeficiency 18 [RCV001106989] Chr11:118315853 [GRCh38]
Chr11:118186568 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.*410A>G single nucleotide variant Immunodeficiency 18 [RCV001106991] Chr11:118315952 [GRCh38]
Chr11:118186667 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.*557T>C single nucleotide variant Immunodeficiency 18 [RCV001106993] Chr11:118316099 [GRCh38]
Chr11:118186814 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.*604G>T single nucleotide variant Immunodeficiency 18 [RCV001107642] Chr11:118316146 [GRCh38]
Chr11:118186861 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.3(CD3E):c.*639T>C single nucleotide variant Immunodeficiency 18 [RCV001107643] Chr11:118316181 [GRCh38]
Chr11:118186896 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.27T>G (p.Val9=) single nucleotide variant Immunodeficiency 18 [RCV000935394] Chr11:118304979 [GRCh38]
Chr11:118175694 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.71-100T>C single nucleotide variant not provided [RCV001675027] Chr11:118308327 [GRCh38]
Chr11:118179042 [GRCh37]
Chr11:11q23.3		 benign
NM_000733.4(CD3E):c.352+152C>T single nucleotide variant not provided [RCV001720596]|not specified [RCV003394231] Chr11:118313018 [GRCh38]
Chr11:118183733 [GRCh37]
Chr11:11q23.3		 benign
NM_000733.4(CD3E):c.567+137G>A single nucleotide variant not provided [RCV001617989]|not specified [RCV003487550] Chr11:118314631 [GRCh38]
Chr11:118185346 [GRCh37]
Chr11:11q23.3		 benign
NM_000733.4(CD3E):c.353-151T>C single nucleotide variant not provided [RCV001716525] Chr11:118313556 [GRCh38]
Chr11:118184271 [GRCh37]
Chr11:11q23.3		 benign
NM_000733.4(CD3E):c.611A>G (p.Gln204Arg) single nucleotide variant Immunodeficiency 18 [RCV001104215] Chr11:118315529 [GRCh38]
Chr11:118186244 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.*196C>G single nucleotide variant Immunodeficiency 18 [RCV001104216] Chr11:118315738 [GRCh38]
Chr11:118186453 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.82A>C (p.Met28Leu) single nucleotide variant Immunodeficiency 18 [RCV001103936] Chr11:118308438 [GRCh38]
Chr11:118179153 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.353-11A>T single nucleotide variant Immunodeficiency 18 [RCV001103937]|not provided [RCV001655675] Chr11:118313696 [GRCh38]
Chr11:118184411 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000733.4(CD3E):c.292T>C (p.Cys98Arg) single nucleotide variant Immunodeficiency 18 [RCV001069000]|Inborn genetic diseases [RCV003160569] Chr11:118312806 [GRCh38]
Chr11:118183521 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.*522C>G single nucleotide variant Immunodeficiency 18 [RCV001106992] Chr11:118316064 [GRCh38]
Chr11:118186779 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.*247C>T single nucleotide variant Immunodeficiency 18 [RCV001106988] Chr11:118315789 [GRCh38]
Chr11:118186504 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.*383C>T single nucleotide variant Immunodeficiency 18 [RCV001106990] Chr11:118315925 [GRCh38]
Chr11:118186640 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.408G>A (p.Val136=) single nucleotide variant Immunodeficiency 18 [RCV001103938] Chr11:118313762 [GRCh38]
Chr11:118184477 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000733.4(CD3E):c.521-23T>C single nucleotide variant not provided [RCV001713477]|not specified [RCV003394229] Chr11:118314425 [GRCh38]
Chr11:118185140 [GRCh37]
Chr11:11q23.3		 benign
NM_000733.4(CD3E):c.103+1G>A single nucleotide variant Immunodeficiency 18 [RCV001036329] Chr11:118312171 [GRCh38]
Chr11:118182886 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000733.4(CD3E):c.490C>T (p.Arg164Ter) single nucleotide variant Immunodeficiency 18 [RCV001051528] Chr11:118313844 [GRCh38]
Chr11:118184559 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000733.4(CD3E):c.441G>A (p.Leu147=) single nucleotide variant Immunodeficiency 18 [RCV001104214] Chr11:118313795 [GRCh38]
Chr11:118184510 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000733.4(CD3E):c.202G>A (p.Gly68Ser) single nucleotide variant Immunodeficiency 18 [RCV001040601]|Inborn genetic diseases [RCV002551477] Chr11:118312716 [GRCh38]
Chr11:118183431 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.*559G>C single nucleotide variant Immunodeficiency 18 [RCV001107641] Chr11:118316101 [GRCh38]
Chr11:118186816 [GRCh37]
Chr11:11q23.3		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_000733.4(CD3E):c.230G>A (p.Ser77Asn) single nucleotide variant Immunodeficiency 18 [RCV001340412] Chr11:118312744 [GRCh38]
Chr11:118183459 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.221A>C (p.Asn74Thr) single nucleotide variant Immunodeficiency 18 [RCV001334564] Chr11:118312735 [GRCh38]
Chr11:118183450 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.239A>C (p.Asp80Ala) single nucleotide variant Immunodeficiency 18 [RCV001359203] Chr11:118312753 [GRCh38]
Chr11:118183468 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.255G>T (p.Lys85Asn) single nucleotide variant Immunodeficiency 18 [RCV001364994] Chr11:118312769 [GRCh38]
Chr11:118183484 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.469G>T (p.Ala157Ser) single nucleotide variant Immunodeficiency 18 [RCV001323158] Chr11:118313823 [GRCh38]
Chr11:118184538 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_118007722)_(119170511_?)del deletion Long QT syndrome 10 [RCV001309948] Chr11:118007722..119170511 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.99G>C (p.Gln33His) single nucleotide variant Immunodeficiency 18 [RCV001345315] Chr11:118312166 [GRCh38]
Chr11:118182881 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.507C>A (p.Gly169=) single nucleotide variant Immunodeficiency 18 [RCV001416804] Chr11:118313861 [GRCh38]
Chr11:118184576 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.353-4A>C single nucleotide variant Immunodeficiency 18 [RCV001482629] Chr11:118313703 [GRCh38]
Chr11:118184418 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.9G>A (p.Ser3=) single nucleotide variant Immunodeficiency 18 [RCV001403295] Chr11:118304961 [GRCh38]
Chr11:118175676 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.567+283T>C single nucleotide variant not provided [RCV001643661] Chr11:118314777 [GRCh38]
Chr11:118185492 [GRCh37]
Chr11:11q23.3		 benign
NM_000733.4(CD3E):c.568-282A>G single nucleotide variant not provided [RCV001616150] Chr11:118315204 [GRCh38]
Chr11:118185919 [GRCh37]
Chr11:11q23.3		 benign
NM_000733.4(CD3E):c.353-6C>T single nucleotide variant Immunodeficiency 18 [RCV001484537] Chr11:118313701 [GRCh38]
Chr11:118184416 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.579A>G (p.Lys193=) single nucleotide variant Immunodeficiency 18 [RCV001461841] Chr11:118315497 [GRCh38]
Chr11:118186212 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.387G>A (p.Ser129=) single nucleotide variant Immunodeficiency 18 [RCV001450236] Chr11:118313741 [GRCh38]
Chr11:118184456 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
NM_000733.4(CD3E):c.116C>A (p.Ser39Tyr) single nucleotide variant Immunodeficiency 18 [RCV001963801] Chr11:118312630 [GRCh38]
Chr11:118183345 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_116691583)_(121500272_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV003119252]|Immunodeficiency 18 [RCV003109226]|Immunodeficiency 19 [RCV003109224]|Inflammatory bowel disease 28 [RCV003109225]|Isolated microphthalmia 5 [RCV003119251]|RASopathy [RCV003119250] Chr11:116691583..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NM_000733.4(CD3E):c.521-15del deletion Immunodeficiency 18 [RCV002104361] Chr11:118314430 [GRCh38]
Chr11:118185145 [GRCh37]
Chr11:11q23.3		 benign
NM_000733.4(CD3E):c.50-80C>A single nucleotide variant not provided [RCV001779670] Chr11:118307208 [GRCh38]
Chr11:118177923 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.49+191G>A single nucleotide variant not provided [RCV001733036] Chr11:118305192 [GRCh38]
Chr11:118175907 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.353-72C>T single nucleotide variant not provided [RCV001779691] Chr11:118313635 [GRCh38]
Chr11:118184350 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.59G>T (p.Trp20Leu) single nucleotide variant Immunodeficiency 18 [RCV001910167] Chr11:118307297 [GRCh38]
Chr11:118178012 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.8C>T (p.Ser3Leu) single nucleotide variant Immunodeficiency 18 [RCV002543303]|not specified [RCV001844519] Chr11:118304960 [GRCh38]
Chr11:118175675 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.424G>C (p.Gly142Arg) single nucleotide variant Immunodeficiency 18 [RCV002006225] Chr11:118313778 [GRCh38]
Chr11:118184493 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.119T>C (p.Ile40Thr) single nucleotide variant Immunodeficiency 18 [RCV001913962] Chr11:118312633 [GRCh38]
Chr11:118183348 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.603C>T (p.Gly201=) single nucleotide variant Immunodeficiency 18 [RCV002041596] Chr11:118315521 [GRCh38]
Chr11:118186236 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3		 pathogenic
NM_000733.4(CD3E):c.202_228dup (p.Gly68_Gly76dup) duplication Immunodeficiency 18 [RCV002040153] Chr11:118312698..118312699 [GRCh38]
Chr11:118183413..118183414 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_116660844)_(121500272_?)dup duplication not provided [RCV003107886] Chr11:116660844..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NM_000733.4(CD3E):c.520+5G>A single nucleotide variant Immunodeficiency 18 [RCV002010444] Chr11:118313879 [GRCh38]
Chr11:118184594 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.439C>G (p.Leu147Val) single nucleotide variant Immunodeficiency 18 [RCV001884368] Chr11:118313793 [GRCh38]
Chr11:118184508 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.313C>A (p.Pro105Thr) single nucleotide variant Immunodeficiency 18 [RCV001943801] Chr11:118312827 [GRCh38]
Chr11:118183542 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.464G>A (p.Arg155Lys) single nucleotide variant Immunodeficiency 18 [RCV001936281] Chr11:118313818 [GRCh38]
Chr11:118184533 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.508G>A (p.Gly170Ser) single nucleotide variant Immunodeficiency 18 [RCV002027370] Chr11:118313862 [GRCh38]
Chr11:118184577 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.548T>C (p.Val183Ala) single nucleotide variant Immunodeficiency 18 [RCV001881313] Chr11:118314475 [GRCh38]
Chr11:118185190 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.568-10T>G single nucleotide variant Immunodeficiency 18 [RCV001903040] Chr11:118315476 [GRCh38]
Chr11:118186191 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000733.4(CD3E):c.211G>A (p.Asp71Asn) single nucleotide variant Immunodeficiency 18 [RCV002049849] Chr11:118312725 [GRCh38]
Chr11:118183440 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.409G>T (p.Asp137Tyr) single nucleotide variant Immunodeficiency 18 [RCV001992937] Chr11:118313763 [GRCh38]
Chr11:118184478 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.71-2A>G single nucleotide variant Immunodeficiency 18 [RCV001976053] Chr11:118308425 [GRCh38]
Chr11:118179140 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000733.4(CD3E):c.88G>A (p.Gly30Ser) single nucleotide variant Immunodeficiency 18 [RCV001930591]|Inborn genetic diseases [RCV003365553] Chr11:118312155 [GRCh38]
Chr11:118182870 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000733.4(CD3E):c.85+4A>G single nucleotide variant Immunodeficiency 18 [RCV001999264] Chr11:118308445 [GRCh38]
Chr11:118179160 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.323C>A (p.Ala108Glu) single nucleotide variant Immunodeficiency 18 [RCV001897975] Chr11:118312837 [GRCh38]
Chr11:118183552 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.448T>C (p.Tyr150His) single nucleotide variant Immunodeficiency 18 [RCV001901833] Chr11:118313802 [GRCh38]
Chr11:118184517 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.542C>G (p.Pro181Arg) single nucleotide variant Immunodeficiency 18 [RCV001879467] Chr11:118314469 [GRCh38]
Chr11:118185184 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_118007742)_(119170491_?)dup duplication DPAGT1-congenital disorder of glycosylation [RCV001975773] Chr11:118007742..119170491 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.495A>G (p.Gly165=) single nucleotide variant Immunodeficiency 18 [RCV002146691] Chr11:118313849 [GRCh38]
Chr11:118184564 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.85+7A>T single nucleotide variant Immunodeficiency 18 [RCV002209282] Chr11:118308448 [GRCh38]
Chr11:118179163 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.104-16C>T single nucleotide variant Immunodeficiency 18 [RCV002204961] Chr11:118312602 [GRCh38]
Chr11:118183317 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.70+7T>C single nucleotide variant Immunodeficiency 18 [RCV002106664] Chr11:118307315 [GRCh38]
Chr11:118178030 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.353-5C>T single nucleotide variant Immunodeficiency 18 [RCV002188045] Chr11:118313702 [GRCh38]
Chr11:118184417 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.352+9G>A single nucleotide variant Immunodeficiency 18 [RCV002168838] Chr11:118312875 [GRCh38]
Chr11:118183590 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.353-13C>G single nucleotide variant Immunodeficiency 18 [RCV002195040] Chr11:118313694 [GRCh38]
Chr11:118184409 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.85+17T>C single nucleotide variant Immunodeficiency 18 [RCV002153424] Chr11:118308458 [GRCh38]
Chr11:118179173 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.462T>C (p.Asn154=) single nucleotide variant Immunodeficiency 18 [RCV002165347] Chr11:118313816 [GRCh38]
Chr11:118184531 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.534G>A (p.Glu178=) single nucleotide variant Immunodeficiency 18 [RCV002212113] Chr11:118314461 [GRCh38]
Chr11:118185176 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.353-18C>T single nucleotide variant Immunodeficiency 18 [RCV002215395] Chr11:118313689 [GRCh38]
Chr11:118184404 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.567+14G>A single nucleotide variant Immunodeficiency 18 [RCV002096764] Chr11:118314508 [GRCh38]
Chr11:118185223 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.85+16C>T single nucleotide variant Immunodeficiency 18 [RCV002116056] Chr11:118308457 [GRCh38]
Chr11:118179172 [GRCh37]
Chr11:11q23.3		 benign
NM_000733.4(CD3E):c.71-15C>T single nucleotide variant Immunodeficiency 18 [RCV002155022] Chr11:118308412 [GRCh38]
Chr11:118179127 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.447C>T (p.Tyr149=) single nucleotide variant Immunodeficiency 18 [RCV002135526] Chr11:118313801 [GRCh38]
Chr11:118184516 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.567+12T>C single nucleotide variant Immunodeficiency 18 [RCV002141737] Chr11:118314506 [GRCh38]
Chr11:118185221 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.568-11_568-10del deletion Immunodeficiency 18 [RCV002102724] Chr11:118315474..118315475 [GRCh38]
Chr11:118186189..118186190 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.71-11T>C single nucleotide variant Immunodeficiency 18 [RCV003112772] Chr11:118308416 [GRCh38]
Chr11:118179131 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_117209303)_(120133495_?)dup duplication not provided [RCV003122151] Chr11:117209303..120133495 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.49+175G>A single nucleotide variant not provided [RCV002286126] Chr11:118305176 [GRCh38]
Chr11:118175891 [GRCh37]
Chr11:11q23.3		 likely benign
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_000733.4(CD3E):c.30G>A (p.Leu10=) single nucleotide variant Immunodeficiency 18 [RCV003032904] Chr11:118304982 [GRCh38]
Chr11:118175697 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.420C>T (p.Ile140=) single nucleotide variant Immunodeficiency 18 [RCV002750965] Chr11:118313774 [GRCh38]
Chr11:118184489 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.63G>A (p.Gly21=) single nucleotide variant Immunodeficiency 18 [RCV002591937] Chr11:118307301 [GRCh38]
Chr11:118178016 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.521-4G>A single nucleotide variant Immunodeficiency 18 [RCV002932487] Chr11:118314444 [GRCh38]
Chr11:118185159 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.58T>G (p.Trp20Gly) single nucleotide variant Immunodeficiency 18 [RCV003042187] Chr11:118307296 [GRCh38]
Chr11:118178011 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.71-17T>A single nucleotide variant Immunodeficiency 18 [RCV002595483] Chr11:118308410 [GRCh38]
Chr11:118179125 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.86-7T>C single nucleotide variant Immunodeficiency 18 [RCV003058716] Chr11:118312146 [GRCh38]
Chr11:118182861 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.50-7T>G single nucleotide variant Immunodeficiency 18 [RCV003022223] Chr11:118307281 [GRCh38]
Chr11:118177996 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.490C>G (p.Arg164Gly) single nucleotide variant Immunodeficiency 18 [RCV002624364] Chr11:118313844 [GRCh38]
Chr11:118184559 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.353-5C>G single nucleotide variant Immunodeficiency 18 [RCV002982496] Chr11:118313702 [GRCh38]
Chr11:118184417 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.352+14C>T single nucleotide variant Immunodeficiency 18 [RCV003088953] Chr11:118312880 [GRCh38]
Chr11:118183595 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.623G>A (p.Ter208=) single nucleotide variant Immunodeficiency 18 [RCV003063915] Chr11:118315541 [GRCh38]
Chr11:118186256 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.234T>C (p.Asp78=) single nucleotide variant Immunodeficiency 18 [RCV002835165] Chr11:118312748 [GRCh38]
Chr11:118183463 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.85+13C>T single nucleotide variant Immunodeficiency 18 [RCV002630931] Chr11:118308454 [GRCh38]
Chr11:118179169 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.89G>C (p.Gly30Ala) single nucleotide variant Immunodeficiency 18 [RCV002811271] Chr11:118312156 [GRCh38]
Chr11:118182871 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.521-10T>A single nucleotide variant Immunodeficiency 18 [RCV002877504] Chr11:118314438 [GRCh38]
Chr11:118185153 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.575G>C (p.Arg192Pro) single nucleotide variant Immunodeficiency 18 [RCV002806589] Chr11:118315493 [GRCh38]
Chr11:118186208 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.386C>T (p.Ser129Leu) single nucleotide variant Inborn genetic diseases [RCV002718962] Chr11:118313740 [GRCh38]
Chr11:118184455 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.71-8C>T single nucleotide variant Immunodeficiency 18 [RCV002899202] Chr11:118308419 [GRCh38]
Chr11:118179134 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.145T>A (p.Cys49Ser) single nucleotide variant Inborn genetic diseases [RCV002718120] Chr11:118312659 [GRCh38]
Chr11:118183374 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.71G>T (p.Gly24Val) single nucleotide variant Immunodeficiency 18 [RCV002654072] Chr11:118308427 [GRCh38]
Chr11:118179142 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.568-7C>A single nucleotide variant Immunodeficiency 18 [RCV002582968] Chr11:118315479 [GRCh38]
Chr11:118186194 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.587G>A (p.Arg196Gln) single nucleotide variant Immunodeficiency 18 [RCV002582612] Chr11:118315505 [GRCh38]
Chr11:118186220 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.521-19T>C single nucleotide variant Immunodeficiency 18 [RCV003051707] Chr11:118314429 [GRCh38]
Chr11:118185144 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.481C>G (p.Pro161Ala) single nucleotide variant Immunodeficiency 18 [RCV002612426]|Inborn genetic diseases [RCV003269505] Chr11:118313835 [GRCh38]
Chr11:118184550 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.288T>A (p.Tyr96Ter) single nucleotide variant Immunodeficiency 18 [RCV003778929]|Severe combined immunodeficiency disease [RCV003155755] Chr11:118312802 [GRCh38]
Chr11:118183517 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_000733.4(CD3E):c.409G>A (p.Asp137Asn) single nucleotide variant Immunodeficiency 18 [RCV003338034] Chr11:118313763 [GRCh38]
Chr11:118184478 [GRCh37]
Chr11:11q23.3		 uncertain significance
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
NM_000733.4(CD3E):c.592C>T (p.Leu198=) single nucleotide variant Immunodeficiency 18 [RCV003852746] Chr11:118315510 [GRCh38]
Chr11:118186225 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.86-10dup duplication Immunodeficiency 18 [RCV003828056] Chr11:118312137..118312138 [GRCh38]
Chr11:118182852..118182853 [GRCh37]
Chr11:11q23.3		 benign
NM_000733.4(CD3E):c.210G>A (p.Glu70=) single nucleotide variant Immunodeficiency 18 [RCV003830264] Chr11:118312724 [GRCh38]
Chr11:118183439 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.417C>T (p.Cys139=) single nucleotide variant Immunodeficiency 18 [RCV003826387] Chr11:118313771 [GRCh38]
Chr11:118184486 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.70+11C>T single nucleotide variant Immunodeficiency 18 [RCV003745112] Chr11:118307319 [GRCh38]
Chr11:118178034 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.429C>A (p.Gly143=) single nucleotide variant Immunodeficiency 18 [RCV003743182] Chr11:118313783 [GRCh38]
Chr11:118184498 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.472A>T (p.Lys158Ter) single nucleotide variant Immunodeficiency 18 [RCV003743222] Chr11:118313826 [GRCh38]
Chr11:118184541 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000733.4(CD3E):c.435G>A (p.Leu145=) single nucleotide variant Immunodeficiency 18 [RCV003745150] Chr11:118313789 [GRCh38]
Chr11:118184504 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.567+18T>A single nucleotide variant Immunodeficiency 18 [RCV003745208] Chr11:118314512 [GRCh38]
Chr11:118185227 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.85+16_85+24dup duplication Immunodeficiency 18 [RCV003743310] Chr11:118308455..118308456 [GRCh38]
Chr11:118179170..118179171 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.85+20A>C single nucleotide variant Immunodeficiency 18 [RCV003831965] Chr11:118308461 [GRCh38]
Chr11:118179176 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.103+8T>C single nucleotide variant Immunodeficiency 18 [RCV003743349] Chr11:118312178 [GRCh38]
Chr11:118182893 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.70+14T>G single nucleotide variant Immunodeficiency 18 [RCV003583242] Chr11:118307322 [GRCh38]
Chr11:118178037 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.353-1G>A single nucleotide variant Immunodeficiency 18 [RCV003583278] Chr11:118313706 [GRCh38]
Chr11:118184421 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000733.4(CD3E):c.353-4dup duplication Immunodeficiency 18 [RCV003583321] Chr11:118313702..118313703 [GRCh38]
Chr11:118184417..118184418 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.520+1G>A single nucleotide variant Immunodeficiency 18 [RCV003583363] Chr11:118313875 [GRCh38]
Chr11:118184590 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000733.4(CD3E):c.282T>G (p.Gly94=) single nucleotide variant Immunodeficiency 18 [RCV003744477] Chr11:118312796 [GRCh38]
Chr11:118183511 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.568-9C>T single nucleotide variant Immunodeficiency 18 [RCV003583932] Chr11:118315477 [GRCh38]
Chr11:118186192 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.520+19G>C single nucleotide variant Immunodeficiency 18 [RCV003744236] Chr11:118313893 [GRCh38]
Chr11:118184608 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.353-12C>T single nucleotide variant Immunodeficiency 18 [RCV003744257] Chr11:118313695 [GRCh38]
Chr11:118184410 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.189T>C (p.Asp63=) single nucleotide variant Immunodeficiency 18 [RCV003743332] Chr11:118312703 [GRCh38]
Chr11:118183418 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.521-4G>T single nucleotide variant Immunodeficiency 18 [RCV003745668] Chr11:118314444 [GRCh38]
Chr11:118185159 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.49+1G>A single nucleotide variant Immunodeficiency 18 [RCV003745739] Chr11:118305002 [GRCh38]
Chr11:118175717 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000733.4(CD3E):c.436C>T (p.Leu146=) single nucleotide variant Immunodeficiency 18 [RCV003745757] Chr11:118313790 [GRCh38]
Chr11:118184505 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.190A>T (p.Lys64Ter) single nucleotide variant Immunodeficiency 18 [RCV003583322] Chr11:118312704 [GRCh38]
Chr11:118183419 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000733.4(CD3E):c.70+15C>T single nucleotide variant Immunodeficiency 18 [RCV003745812] Chr11:118307323 [GRCh38]
Chr11:118178038 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.353-5del deletion Immunodeficiency 18 [RCV003745796] Chr11:118313697 [GRCh38]
Chr11:118184412 [GRCh37]
Chr11:11q23.3		 benign
NM_000733.4(CD3E):c.521-9C>T single nucleotide variant Immunodeficiency 18 [RCV003838728] Chr11:118314439 [GRCh38]
Chr11:118185154 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.490C>A (p.Arg164=) single nucleotide variant Immunodeficiency 18 [RCV003583767] Chr11:118313844 [GRCh38]
Chr11:118184559 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.568-14T>C single nucleotide variant Immunodeficiency 18 [RCV003744520] Chr11:118315472 [GRCh38]
Chr11:118186187 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.353-15C>T single nucleotide variant Immunodeficiency 18 [RCV003583844] Chr11:118313692 [GRCh38]
Chr11:118184407 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.104-18T>C single nucleotide variant Immunodeficiency 18 [RCV003583890] Chr11:118312600 [GRCh38]
Chr11:118183315 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.568-17_568-14del microsatellite Immunodeficiency 18 [RCV003743055] Chr11:118315467..118315470 [GRCh38]
Chr11:118186182..118186185 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.50-17T>C single nucleotide variant Immunodeficiency 18 [RCV003583566] Chr11:118307271 [GRCh38]
Chr11:118177986 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.70+10G>A single nucleotide variant Immunodeficiency 18 [RCV003583362] Chr11:118307318 [GRCh38]
Chr11:118178033 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.360G>A (p.Glu120=) single nucleotide variant Immunodeficiency 18 [RCV003836071] Chr11:118313714 [GRCh38]
Chr11:118184429 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.104-12C>A single nucleotide variant Immunodeficiency 18 [RCV003744096] Chr11:118312606 [GRCh38]
Chr11:118183321 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.42C>T (p.Leu14=) single nucleotide variant Immunodeficiency 18 [RCV003744261] Chr11:118304994 [GRCh38]
Chr11:118175709 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.568-16T>G single nucleotide variant Immunodeficiency 18 [RCV003583825] Chr11:118315470 [GRCh38]
Chr11:118186185 [GRCh37]
Chr11:11q23.3		 benign
NM_000733.4(CD3E):c.71-10T>C single nucleotide variant Immunodeficiency 18 [RCV003583839] Chr11:118308417 [GRCh38]
Chr11:118179132 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.15T>C (p.Thr5=) single nucleotide variant Immunodeficiency 18 [RCV003745044] Chr11:118304967 [GRCh38]
Chr11:118175682 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.353-4A>G single nucleotide variant Immunodeficiency 18 [RCV003583355] Chr11:118313703 [GRCh38]
Chr11:118184418 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.517A>C (p.Arg173=) single nucleotide variant Immunodeficiency 18 [RCV003745084] Chr11:118313871 [GRCh38]
Chr11:118184586 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.353-6C>G single nucleotide variant Immunodeficiency 18 [RCV003837101] Chr11:118313701 [GRCh38]
Chr11:118184416 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.49+8G>A single nucleotide variant Immunodeficiency 18 [RCV003583866] Chr11:118305009 [GRCh38]
Chr11:118175724 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.568-3dup duplication Immunodeficiency 18 [RCV003583962] Chr11:118315478..118315479 [GRCh38]
Chr11:118186193..118186194 [GRCh37]
Chr11:11q23.3		 benign
NM_000733.4(CD3E):c.103+14T>A single nucleotide variant Immunodeficiency 18 [RCV003584019] Chr11:118312184 [GRCh38]
Chr11:118182899 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.353-6C>A single nucleotide variant Immunodeficiency 18 [RCV003743283] Chr11:118313701 [GRCh38]
Chr11:118184416 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.86-8A>G single nucleotide variant Immunodeficiency 18 [RCV003583719] Chr11:118312145 [GRCh38]
Chr11:118182860 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.147C>T (p.Cys49=) single nucleotide variant Immunodeficiency 18 [RCV003583915] Chr11:118312661 [GRCh38]
Chr11:118183376 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.258A>G (p.Glu86=) single nucleotide variant Immunodeficiency 18 [RCV003583601] Chr11:118312772 [GRCh38]
Chr11:118183487 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.49+1G>C single nucleotide variant Immunodeficiency 18 [RCV003583628] Chr11:118305002 [GRCh38]
Chr11:118175717 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000733.4(CD3E):c.428del (p.Gly143fs) deletion Immunodeficiency 18 [RCV003583629] Chr11:118313778 [GRCh38]
Chr11:118184493 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000733.4(CD3E):c.342G>C (p.Leu114=) single nucleotide variant Immunodeficiency 18 [RCV003583646] Chr11:118312856 [GRCh38]
Chr11:118183571 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.104-6C>T single nucleotide variant Immunodeficiency 18 [RCV003745144] Chr11:118312612 [GRCh38]
Chr11:118183327 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.498G>C (p.Ala166=) single nucleotide variant Immunodeficiency 18 [RCV003583682] Chr11:118313852 [GRCh38]
Chr11:118184567 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.131_132del (p.Thr44fs) microsatellite Immunodeficiency 18 [RCV003583244] Chr11:118312643..118312644 [GRCh38]
Chr11:118183358..118183359 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000733.4(CD3E):c.288T>C (p.Tyr96=) single nucleotide variant Immunodeficiency 18 [RCV003743130] Chr11:118312802 [GRCh38]
Chr11:118183517 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.567+8G>T single nucleotide variant Immunodeficiency 18 [RCV003744173] Chr11:118314502 [GRCh38]
Chr11:118185217 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.86-15T>C single nucleotide variant Immunodeficiency 18 [RCV003584015] Chr11:118312138 [GRCh38]
Chr11:118182853 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.353-9C>T single nucleotide variant Immunodeficiency 18 [RCV003744198] Chr11:118313698 [GRCh38]
Chr11:118184413 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.50-10del deletion Immunodeficiency 18 [RCV003743197] Chr11:118307276 [GRCh38]
Chr11:118177991 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.586C>A (p.Arg196=) single nucleotide variant Immunodeficiency 18 [RCV003583689] Chr11:118315504 [GRCh38]
Chr11:118186219 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.568-6C>G single nucleotide variant Immunodeficiency 18 [RCV003744272] Chr11:118315480 [GRCh38]
Chr11:118186195 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.520+17C>T single nucleotide variant Immunodeficiency 18 [RCV003743319] Chr11:118313891 [GRCh38]
Chr11:118184606 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.49+14A>G single nucleotide variant Immunodeficiency 18 [RCV003745252] Chr11:118305015 [GRCh38]
Chr11:118175730 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.70+11CTTT[3] microsatellite Immunodeficiency 18 [RCV003837353] Chr11:118307319..118307322 [GRCh38]
Chr11:118178034..118178037 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.353-15C>A single nucleotide variant Immunodeficiency 18 [RCV003745762] Chr11:118313692 [GRCh38]
Chr11:118184407 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.475G>T (p.Ala159Ser) single nucleotide variant Immunodeficiency 18 [RCV003745848] Chr11:118313829 [GRCh38]
Chr11:118184544 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000733.4(CD3E):c.585G>A (p.Gln195=) single nucleotide variant Immunodeficiency 18 [RCV003583502] Chr11:118315503 [GRCh38]
Chr11:118186218 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.468G>A (p.Lys156=) single nucleotide variant Immunodeficiency 18 [RCV003583763] Chr11:118313822 [GRCh38]
Chr11:118184537 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.520+20T>C single nucleotide variant Immunodeficiency 18 [RCV003744427] Chr11:118313894 [GRCh38]
Chr11:118184609 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.201C>T (p.Gly67=) single nucleotide variant Immunodeficiency 18 [RCV003745067] Chr11:118312715 [GRCh38]
Chr11:118183430 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.268T>C (p.Leu90=) single nucleotide variant Immunodeficiency 18 [RCV003855025] Chr11:118312782 [GRCh38]
Chr11:118183497 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.504T>G (p.Ala168=) single nucleotide variant Immunodeficiency 18 [RCV003744148] Chr11:118313858 [GRCh38]
Chr11:118184573 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.50-4C>T single nucleotide variant Immunodeficiency 18 [RCV003744110] Chr11:118307284 [GRCh38]
Chr11:118177999 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.521-5C>T single nucleotide variant Immunodeficiency 18 [RCV003861151] Chr11:118314443 [GRCh38]
Chr11:118185158 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.30G>T (p.Leu10=) single nucleotide variant Immunodeficiency 18 [RCV003860484] Chr11:118304982 [GRCh38]
Chr11:118175697 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.15T>G (p.Thr5=) single nucleotide variant Immunodeficiency 18 [RCV003848017] Chr11:118304967 [GRCh38]
Chr11:118175682 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.353-11_353-7del microsatellite Immunodeficiency 18 [RCV003860701] Chr11:118313687..118313691 [GRCh38]
Chr11:118184402..118184406 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.171A>C (p.Ile57=) single nucleotide variant Immunodeficiency 18 [RCV003870046] Chr11:118312685 [GRCh38]
Chr11:118183400 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.520+10T>C single nucleotide variant Immunodeficiency 18 [RCV003869282] Chr11:118313884 [GRCh38]
Chr11:118184599 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.39C>T (p.Cys13=) single nucleotide variant Immunodeficiency 18 [RCV003869583] Chr11:118304991 [GRCh38]
Chr11:118175706 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.567+7T>C single nucleotide variant Immunodeficiency 18 [RCV003745945] Chr11:118314501 [GRCh38]
Chr11:118185216 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.324G>T (p.Ala108=) single nucleotide variant Immunodeficiency 18 [RCV003745963] Chr11:118312838 [GRCh38]
Chr11:118183553 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.521-13C>T single nucleotide variant Immunodeficiency 18 [RCV003862882] Chr11:118314435 [GRCh38]
Chr11:118185150 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000733.4(CD3E):c.521-9C>G single nucleotide variant Immunodeficiency 18 [RCV003853973] Chr11:118314439 [GRCh38]
Chr11:118185154 [GRCh37]
Chr11:11q23.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1775
Count of miRNA genes:683
Interacting mature miRNAs:777
Transcripts:ENST00000361763, ENST00000526146, ENST00000528435, ENST00000528600, ENST00000529713, ENST00000531913
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.

Markers in Region
D11S4380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,186,349 - 118,186,456UniSTSGRCh37
Build 3611117,691,559 - 117,691,666RGDNCBI36
Celera11115,344,227 - 115,344,334RGD
Cytogenetic Map11q23UniSTS
HuRef11114,119,941 - 114,120,048UniSTS
Whitehead-YAC Contig Map11 UniSTS
RH18074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,186,469 - 118,186,694UniSTSGRCh37
Build 3611117,691,679 - 117,691,904RGDNCBI36
Celera11115,344,347 - 115,344,572RGD
Cytogenetic Map11q23UniSTS
HuRef11114,120,061 - 114,120,286UniSTS
GeneMap99-GB4 RH Map11380.67UniSTS


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 pharyngeal arch
High 1 1
Medium 543 892 289 71 1287 59 125 11 21 112 222 806 13 263 44
Low 1675 1594 1344 516 373 365 3156 1154 1698 216 1015 576 149 938 1945 1 2
Below cutoff 112 480 63 18 196 19 842 960 1809 44 127 52 3 3 773 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000361763   ⟹   ENSP00000354566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,304,730 - 118,316,173 (+)Ensembl
RefSeq Acc Id: ENST00000526146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,304,737 - 118,316,175 (+)Ensembl
RefSeq Acc Id: ENST00000528435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,304,730 - 118,313,744 (+)Ensembl
RefSeq Acc Id: ENST00000528600   ⟹   ENSP00000433975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,304,899 - 118,316,171 (+)Ensembl
RefSeq Acc Id: ENST00000529713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,304,730 - 118,313,341 (+)Ensembl
RefSeq Acc Id: ENST00000531913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,312,144 - 118,315,986 (+)Ensembl
RefSeq Acc Id: NM_000733   ⟹   NP_000724
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,304,730 - 118,316,173 (+)NCBI
GRCh3711118,175,295 - 118,186,890 (+)ENTREZGENE
Build 3611117,680,662 - 117,692,100 (+)NCBI Archive
HuRef11114,108,889 - 114,120,482 (+)ENTREZGENE
CHM1_111118,061,293 - 118,072,876 (+)NCBI
T2T-CHM13v2.011118,321,077 - 118,332,497 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_000724   ⟸   NM_000733
- Peptide Label: precursor
- UniProtKB: A8K997 (UniProtKB/Swiss-Prot),   P07766 (UniProtKB/Swiss-Prot),   E9PSH8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000354566   ⟸   ENST00000361763
RefSeq Acc Id: ENSP00000433975   ⟸   ENST00000528600
Protein Domains
Ig-like   Immunoglobulin subtype   ITAM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P07766-F1-model_v2 AlphaFold P07766 1-207 view protein structure

Promoters
RGD ID:6788589
Promoter ID:HG_KWN:14313
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Jurkat,   Lymphoblastoid
Transcripts:ENST00000392889,   NM_000733,   UC009YZZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611117,680,266 - 117,680,766 (+)MPROMDB
RGD ID:7222295
Promoter ID:EPDNEW_H16893
Type:initiation region
Name:CD3E_1
Description:CD3e molecule
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,304,737 - 118,304,797EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1674 AgrOrtholog
COSMIC CD3E COSMIC
Ensembl Genes ENSG00000198851 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000361763 ENTREZGENE
  ENST00000361763.9 UniProtKB/Swiss-Prot
  ENST00000528600.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198851 GTEx
HGNC ID HGNC:1674 ENTREZGENE
Human Proteome Map CD3E Human Proteome Map
InterPro CD3_esu/gsu/dsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phos_immunorcpt_sig_ITAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:916 UniProtKB/Swiss-Prot
NCBI Gene 916 ENTREZGENE
OMIM 186830 OMIM
PANTHER PTHR10570 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T-CELL SURFACE GLYCOPROTEIN CD3 EPSILON CHAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ig_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ITAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26216 PharmGKB
PROSITE ITAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ITAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0N2Z5_HUMAN UniProtKB/TrEMBL
  A8K997 ENTREZGENE
  CD3E_HUMAN UniProtKB/Swiss-Prot
  E9PSH8 ENTREZGENE, UniProtKB/TrEMBL
  P07766 ENTREZGENE
UniProt Secondary A8K997 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-02-28 CD3E  CD3 epsilon subunit of T-cell receptor complex  CD3E  CD3e molecule  Symbol and/or name change 19259463 PROVISIONAL
2016-01-12 CD3E  CD3e molecule  CD3E  CD3e molecule, epsilon (CD3-TCR complex)  Symbol and/or name change 5135510 APPROVED