STT3A (STT3 oligosaccharyltransferase complex catalytic subunit A) - Rat Genome Database

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Gene: STT3A (STT3 oligosaccharyltransferase complex catalytic subunit A) Homo sapiens
Analyze
Symbol: STT3A
Name: STT3 oligosaccharyltransferase complex catalytic subunit A
RGD ID: 1342989
HGNC Page HGNC:6172
Description: Enables dolichyl-diphosphooligosaccharide-protein glycotransferase activity. Involved in co-translational protein modification and protein N-linked glycosylation via asparagine. Located in membrane. Part of oligosaccharyltransferase complex. Implicated in congenital disorder of glycosylation Iw.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: B5; CDG1WAD; CDG1WAR; dolichyl-diphosphooligosaccharide protein glycotransferase; dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A; FLJ27038; integral membrane protein 1; integral transmembrane protein 1; ITM1; MGC9042; oligosaccharyl transferase subunit STT3A; STT3, subunit of the oligosaccharyltransferase complex, homolog A; STT3-A; STT3A, catalytic subunit of the oligosaccharyltransferase complex; STT3A, cataylic subunit of the oligosaccharyltransferase complex; STT3A, subunit of the oligosaccharyltransferase complex (catalytic); TMC; transmembrane conserved; transmembrane protein TMC
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AL358335.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811125,591,769 - 125,623,091 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11125,591,712 - 125,625,215 (+)EnsemblGRCh38hg38GRCh38
GRCh3711125,462,747 - 125,492,986 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611124,967,967 - 124,996,168 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411124,967,966 - 124,996,162NCBI
Celera11122,623,051 - 122,651,590 (+)NCBICelera
Cytogenetic Map11q24.2NCBI
HuRef11121,404,246 - 121,434,022 (+)NCBIHuRef
CHM1_111125,348,849 - 125,378,778 (+)NCBICHM1_1
T2T-CHM13v2.011125,621,493 - 125,651,713 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Molecular cloning of a highly conserved mouse and human integral membrane protein (Itm1) and genetic mapping to mouse chromosome 9. Hong G, etal., Genomics 1996 Feb 1;31(3):295-300.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
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. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:8634329   PMID:8889548   PMID:8941377   PMID:10234787   PMID:12477932   PMID:12887896   PMID:15835887   PMID:16169070   PMID:16344560   PMID:18187620   PMID:19167329   PMID:19322201  
PMID:19490893   PMID:19946888   PMID:20301507   PMID:21520112   PMID:21873635   PMID:21903422   PMID:21926974   PMID:22119785   PMID:22157935   PMID:22266900   PMID:22268729   PMID:22467853  
PMID:22810586   PMID:23453885   PMID:23606741   PMID:23842455   PMID:24797263   PMID:24981860   PMID:25029371   PMID:25135935   PMID:25460543   PMID:25579050   PMID:25792706   PMID:25921289  
PMID:25959826   PMID:26389662   PMID:26472760   PMID:26496610   PMID:26972000   PMID:27025967   PMID:27342126   PMID:28366632   PMID:28380382   PMID:28424003   PMID:28611215   PMID:28675297  
PMID:28685749   PMID:28846114   PMID:28860277   PMID:29180619   PMID:29331416   PMID:29395067   PMID:29507755   PMID:29509190   PMID:29564676   PMID:29568061   PMID:29911972   PMID:30021884  
PMID:30181269   PMID:30352685   PMID:30463901   PMID:30619736   PMID:30669930   PMID:30833792   PMID:30927234   PMID:30940648   PMID:30948266   PMID:31073040   PMID:31091453   PMID:31280863  
PMID:31296534   PMID:31831667   PMID:31871319   PMID:31950832   PMID:31980649   PMID:32060556   PMID:32149426   PMID:32409323   PMID:32423001   PMID:32628020   PMID:32687490   PMID:32707033  
PMID:32788342   PMID:32807901   PMID:32814053   PMID:32877691   PMID:32913203   PMID:32938586   PMID:33022573   PMID:33144569   PMID:33187986   PMID:33306668   PMID:33462405   PMID:33545068  
PMID:33567341   PMID:33742100   PMID:33845483   PMID:33957083   PMID:34079125   PMID:34186245   PMID:34226595   PMID:34653363   PMID:34672954   PMID:34709727   PMID:34857952   PMID:35007762  
PMID:35140242   PMID:35235311   PMID:35256949   PMID:35271311   PMID:35337019   PMID:35384245   PMID:35439318   PMID:35509820   PMID:35563538   PMID:35605301   PMID:35696571   PMID:35850772  
PMID:35906200   PMID:35944360   PMID:35993436   PMID:36057605   PMID:36114006   PMID:36139350   PMID:36168627   PMID:36180527   PMID:36215168   PMID:36217030   PMID:36376293   PMID:36398858  
PMID:36526897   PMID:36610398   PMID:36634849   PMID:36779763   PMID:37071682   PMID:37167062   PMID:37185839   PMID:37211047   PMID:37223481   PMID:37267103   PMID:37314216   PMID:37317656  
PMID:37827155   PMID:37864032   PMID:37931956   PMID:38113892   PMID:38334954   PMID:38569033   PMID:38697112   PMID:39231216  


Genomics

Comparative Map Data
STT3A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811125,591,769 - 125,623,091 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11125,591,712 - 125,625,215 (+)EnsemblGRCh38hg38GRCh38
GRCh3711125,462,747 - 125,492,986 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611124,967,967 - 124,996,168 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411124,967,966 - 124,996,162NCBI
Celera11122,623,051 - 122,651,590 (+)NCBICelera
Cytogenetic Map11q24.2NCBI
HuRef11121,404,246 - 121,434,022 (+)NCBIHuRef
CHM1_111125,348,849 - 125,378,778 (+)NCBICHM1_1
T2T-CHM13v2.011125,621,493 - 125,651,713 (+)NCBIT2T-CHM13v2.0
Stt3a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39936,640,640 - 36,678,918 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl936,640,640 - 36,678,975 (-)EnsemblGRCm39 Ensembl
GRCm38936,729,344 - 36,767,622 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl936,729,344 - 36,767,679 (-)EnsemblGRCm38mm10GRCm38
MGSCv37936,539,998 - 36,575,163 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36936,481,044 - 36,517,312 (-)NCBIMGSCv36mm8
Celera933,935,517 - 33,969,930 (-)NCBICelera
Cytogenetic Map9A4NCBI
cM Map920.67NCBI
Stt3a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8844,632,473 - 44,671,960 (-)NCBIGRCr8
mRatBN7.2836,443,623 - 36,483,111 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl836,446,788 - 36,483,293 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx840,452,846 - 40,492,526 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0838,735,905 - 38,775,584 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0836,598,791 - 36,638,472 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0839,204,218 - 39,243,751 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl839,181,163 - 39,243,882 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0839,207,076 - 39,246,467 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4837,977,378 - 38,016,865 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera837,957,877 - 37,997,621 (+)NCBICelera
Cytogenetic Map8q22NCBI
Stt3a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541226,595,666 - 26,623,621 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541226,593,142 - 26,624,143 (+)NCBIChiLan1.0ChiLan1.0
STT3A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29126,281,427 - 126,309,692 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111127,385,891 - 127,417,605 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011120,412,488 - 120,440,713 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111124,325,388 - 124,353,598 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11124,325,762 - 124,353,596 (+)Ensemblpanpan1.1panPan2
STT3A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.158,916,428 - 8,942,097 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl58,910,940 - 8,942,146 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha58,962,028 - 8,987,208 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.058,859,753 - 8,884,961 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl58,853,184 - 8,885,011 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.158,929,196 - 8,954,388 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.058,899,155 - 8,924,907 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.058,936,305 - 8,961,500 (-)NCBIUU_Cfam_GSD_1.0
Stt3a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947107,728,232 - 107,754,350 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049367431,975,847 - 2,000,100 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STT3A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl952,724,441 - 52,754,669 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1952,726,794 - 52,754,671 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2958,380,053 - 58,407,896 (+)NCBISscrofa10.2Sscrofa10.2susScr3
STT3A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11116,734,393 - 116,762,820 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1116,734,393 - 116,762,231 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660439,307,922 - 9,336,325 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Stt3a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249271,577,534 - 1,606,596 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249271,577,504 - 1,608,328 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in STT3A
182 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_152713.5(STT3A):c.781-109A>G single nucleotide variant not provided [RCV001766181] Chr11:125608000 [GRCh38]
Chr11:125477895 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.1877T>C (p.Val626Ala) single nucleotide variant STT3A-congenital disorder of glycosylation [RCV000088679]|not provided [RCV003556159] Chr11:125618475 [GRCh38]
Chr11:125488370 [GRCh37]
Chr11:11q24.2		 pathogenic|likely 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 11q24.2-25(chr11:124155723-134998513)x1 copy number loss See cases [RCV000050865] Chr11:124155723..134998513 [GRCh38]
Chr11:124026430..134868407 [GRCh37]
Chr11:123531640..134373617 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1 copy number loss See cases [RCV000050905] Chr11:119433909..134998513 [GRCh38]
Chr11:119304619..134868407 [GRCh37]
Chr11:118809829..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 copy number gain See cases [RCV000051213] Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119215032-134998654)x1 copy number loss See cases [RCV000052715] Chr11:119215032..134998654 [GRCh38]
Chr11:119085742..134868548 [GRCh37]
Chr11:118590952..134373758 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1 copy number loss See cases [RCV000052716] Chr11:120507265..134576266 [GRCh38]
Chr11:120377974..134446160 [GRCh37]
Chr11:119883184..133951370 [NCBI36]
Chr11:11q23.3-25		 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
GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3 copy number gain See cases [RCV000053643] Chr11:120236432..135040246 [GRCh38]
Chr11:120107141..134910140 [GRCh37]
Chr11:119612351..134415350 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:123753493-134998513)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|See cases [RCV000053645] Chr11:123753493..134998513 [GRCh38]
Chr11:123624201..134868407 [GRCh37]
Chr11:123129411..134373617 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1 copy number loss See cases [RCV000134731] Chr11:124205225..134998526 [GRCh38]
Chr11:124075932..134868420 [GRCh37]
Chr11:123581142..134373630 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1 copy number loss See cases [RCV000134708] Chr11:123799938..134998526 [GRCh38]
Chr11:123670646..134868420 [GRCh37]
Chr11:123175856..134373630 [NCBI36]
Chr11:11q24.1-25		 pathogenic
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 11q24.1-24.2(chr11:122182443-125957977)x1 copy number loss See cases [RCV000136594] Chr11:122182443..125957977 [GRCh38]
Chr11:122053151..125827872 [GRCh37]
Chr11:121558361..125333082 [NCBI36]
Chr11:11q24.1-24.2		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1 copy number loss See cases [RCV000136612] Chr11:125241472..134998513 [GRCh38]
Chr11:125111368..134868407 [GRCh37]
Chr11:124616578..134373617 [NCBI36]
Chr11:11q24.2-25		 pathogenic
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(chr11:116868935-135075271)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 11q24.1-25(chr11:121780459-135075271)x1 copy number loss See cases [RCV000138014] Chr11:121780459..135075271 [GRCh38]
Chr11:121651167..134945165 [GRCh37]
Chr11:121156377..134450377 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1 copy number loss See cases [RCV000138675] Chr11:124940059..135075271 [GRCh38]
Chr11:124809955..134945165 [GRCh37]
Chr11:124315165..134450377 [NCBI36]
Chr11:11q24.2-25		 pathogenic|likely benign
GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1 copy number loss See cases [RCV000138373] Chr11:120515759..135075271 [GRCh38]
Chr11:120386468..134945165 [GRCh37]
Chr11:119891678..134450377 [NCBI36]
Chr11:11q23.3-25		 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 11q24.1-25(chr11:123963074-135075271)x1 copy number loss See cases [RCV000138544] Chr11:123963074..135075271 [GRCh38]
Chr11:123833781..134945165 [GRCh37]
Chr11:123338991..134450377 [NCBI36]
Chr11:11q24.1-25		 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(chr11:119424297-135075271)x1 copy number loss See cases [RCV000138947] Chr11:119424297..135075271 [GRCh38]
Chr11:119295007..134945165 [GRCh37]
Chr11:118800217..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|likely benign
GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1 copy number loss See cases [RCV000140070] Chr11:120080142..125829106 [GRCh38]
Chr11:119950851..125699001 [GRCh37]
Chr11:119456061..125204211 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1 copy number loss See cases [RCV000139907] Chr11:124315025..134818116 [GRCh38]
Chr11:124184921..134688010 [GRCh37]
Chr11:123690131..134193220 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1 copy number loss See cases [RCV000139622] Chr11:121689052..135075271 [GRCh38]
Chr11:121559760..134945165 [GRCh37]
Chr11:121064970..134450377 [NCBI36]
Chr11:11q24.1-25		 pathogenic|likely benign
GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1 copy number loss See cases [RCV000142210] Chr11:121806547..135068576 [GRCh38]
Chr11:121677255..134938470 [GRCh37]
Chr11:121182465..134443680 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1 copy number loss See cases [RCV000142185] Chr11:121611476..135068576 [GRCh38]
Chr11:121482185..134938470 [GRCh37]
Chr11:120987395..134443680 [NCBI36]
Chr11:11q24.1-25		 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 11q24.2-25(chr11:125446101-134904063) copy number loss 11q partial monosomy syndrome [RCV000767602] Chr11:125446101..134904063 [GRCh37]
Chr11:11q24.2-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1 copy number loss See cases [RCV000239781] Chr11:120615374..134868407 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1 copy number loss See cases [RCV000240237] Chr11:119807473..134868407 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1 copy number loss See cases [RCV000511335] Chr11:121416261..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
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(chr11:119513909-134938470)x1 copy number loss See cases [RCV000447077] Chr11:119513909..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_152713.5(STT3A):c.1752C>G (p.Gly584=) single nucleotide variant not provided [RCV000973096]|not specified [RCV000427486] Chr11:125614404 [GRCh38]
Chr11:125484299 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.1617A>G (p.Thr539=) single nucleotide variant not provided [RCV001522070]|not specified [RCV000431170] Chr11:125614149 [GRCh38]
Chr11:125484044 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.509-15G>T single nucleotide variant not provided [RCV001720196] Chr11:125605614 [GRCh38]
Chr11:125475509 [GRCh37]
Chr11:11q24.2		 benign|likely benign
NM_152713.5(STT3A):c.-36+817C>G single nucleotide variant not specified [RCV000438811] Chr11:125593735 [GRCh38]
Chr11:125463630 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.616-12A>G single nucleotide variant not specified [RCV000438865] Chr11:125606289 [GRCh38]
Chr11:125476184 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.271+8G>T single nucleotide variant STT3A-related disorder [RCV003942434]|not specified [RCV000419040] Chr11:125602432 [GRCh38]
Chr11:125472327 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.768T>C (p.Phe256=) single nucleotide variant not provided [RCV000912648]|not specified [RCV000432248] Chr11:125606453 [GRCh38]
Chr11:125476348 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.1911C>T (p.Cys637=) single nucleotide variant not provided [RCV001515135]|not specified [RCV000419405] Chr11:125618509 [GRCh38]
Chr11:125488404 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.1117+12C>T single nucleotide variant STT3A-congenital disorder of glycosylation [RCV001815387]|not provided [RCV001514633]|not specified [RCV000429002] Chr11:125609601 [GRCh38]
Chr11:125479496 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.177C>T (p.Phe59=) single nucleotide variant not provided [RCV000870941] Chr11:125602330 [GRCh38]
Chr11:125472225 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.88+7G>T single nucleotide variant not provided [RCV001511176]|not specified [RCV000432616] Chr11:125596010 [GRCh38]
Chr11:125465905 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.52T>C (p.Leu18=) single nucleotide variant not provided [RCV001511175]|not specified [RCV000425807] Chr11:125595967 [GRCh38]
Chr11:125465862 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.149+20C>T single nucleotide variant not provided [RCV002059825]|not specified [RCV000425987] Chr11:125597139 [GRCh38]
Chr11:125467034 [GRCh37]
Chr11:11q24.2		 benign|likely benign
NM_152713.5(STT3A):c.-36+815T>G single nucleotide variant not provided [RCV001720241] Chr11:125593733 [GRCh38]
Chr11:125463628 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.-34T>C single nucleotide variant not specified [RCV000422589] Chr11:125595882 [GRCh38]
Chr11:125465777 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.1464T>C (p.Ile488=) single nucleotide variant not provided [RCV001521747]|not specified [RCV000436819] Chr11:125613087 [GRCh38]
Chr11:125482982 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.672C>G (p.Leu224=) single nucleotide variant not provided [RCV001511177]|not specified [RCV000443997] Chr11:125606357 [GRCh38]
Chr11:125476252 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.-36+17A>G single nucleotide variant not specified [RCV000444341] Chr11:125592935 [GRCh38]
Chr11:125462830 [GRCh37]
Chr11:11q24.2		 likely benign
GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1 copy number loss See cases [RCV000445814] Chr11:121501072..134868348 [GRCh37]
Chr11:11q24.1-25		 pathogenic
NM_152713.5(STT3A):c.1365+8G>A single nucleotide variant not provided [RCV001511178]|not specified [RCV000437188] Chr11:125612755 [GRCh38]
Chr11:125482650 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.996G>A (p.Ser332=) single nucleotide variant STT3A-congenital disorder of glycosylation [RCV001815386]|not provided [RCV001514632]|not specified [RCV000426935] Chr11:125609468 [GRCh38]
Chr11:125479363 [GRCh37]
Chr11:11q24.2		 benign
GRCh37/hg19 11q24.1-25(chr11:121559102-134938470)x1 copy number loss See cases [RCV000449003] Chr11:121559102..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:122403610-134938470)x1 copy number loss See cases [RCV000448215] Chr11:122403610..134938470 [GRCh37]
Chr11:11q24.1-25		 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
GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3 copy number gain See cases [RCV000511146] Chr11:122884694..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1 copy number loss See cases [RCV000511283] Chr11:120527021..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1 copy number loss See cases [RCV000510856] Chr11:121136603..134938470 [GRCh37]
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
NM_152713.5(STT3A):c.860G>A (p.Arg287His) single nucleotide variant Inborn genetic diseases [RCV003275733] Chr11:125608188 [GRCh38]
Chr11:125478083 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.888A>C (p.Glu296Asp) single nucleotide variant Inborn genetic diseases [RCV003272073] Chr11:125608216 [GRCh38]
Chr11:125478111 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1179T>C (p.Gly393=) single nucleotide variant not specified [RCV000600744] Chr11:125611489 [GRCh38]
Chr11:125481384 [GRCh37]
Chr11:11q24.2		 likely benign
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1 copy number loss not provided [RCV000683371] Chr11:119538664..134938470 [GRCh37]
Chr11:11q23.3-25		 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
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
Single allele duplication Schizophrenia [RCV000754124] Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25		 likely 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
GRCh37/hg19 11q24.2-25(chr11:125366454-134938470)x1 copy number loss not provided [RCV000750223] Chr11:125366454..134938470 [GRCh37]
Chr11:11q24.2-25		 pathogenic
NM_152713.5(STT3A):c.1775-259_1775-256dup duplication not provided [RCV001611431] Chr11:125618111..125618112 [GRCh38]
Chr11:125488006..125488007 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.271+28T>A single nucleotide variant not provided [RCV001611839] Chr11:125602452 [GRCh38]
Chr11:125472347 [GRCh37]
Chr11:11q24.2		 benign
NC_000011.10:g.125592730G>T single nucleotide variant not provided [RCV001611070] Chr11:125592730 [GRCh38]
Chr11:125462625 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.149+130C>A single nucleotide variant not provided [RCV001641911] Chr11:125597249 [GRCh38]
Chr11:125467144 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.1193A>G (p.Tyr398Cys) single nucleotide variant Congenital disorder of glycosylation, type Iw, autosomal dominant [RCV003448538] Chr11:125611503 [GRCh38]
Chr11:125481398 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.508+164T>C single nucleotide variant not provided [RCV001609561] Chr11:125604411 [GRCh38]
Chr11:125474306 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.88+112T>G single nucleotide variant not provided [RCV001648982] Chr11:125596115 [GRCh38]
Chr11:125466010 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.418-7C>T single nucleotide variant not provided [RCV000950440] Chr11:125604150 [GRCh38]
Chr11:125474045 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.1671+7T>C single nucleotide variant not provided [RCV000919770] Chr11:125614210 [GRCh38]
Chr11:125484105 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.1266C>G (p.Val422=) single nucleotide variant not provided [RCV000875657] Chr11:125612648 [GRCh38]
Chr11:125482543 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.1950T>G (p.Val650=) single nucleotide variant not provided [RCV000902135] Chr11:125618548 [GRCh38]
Chr11:125488443 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.135C>T (p.Ile45=) single nucleotide variant not provided [RCV000922560] Chr11:125597105 [GRCh38]
Chr11:125467000 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.999G>C (p.Leu333=) single nucleotide variant not provided [RCV000904843] Chr11:125609471 [GRCh38]
Chr11:125479366 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.1775-7C>T single nucleotide variant not provided [RCV000877049] Chr11:125618366 [GRCh38]
Chr11:125488261 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.89-10G>A single nucleotide variant not provided [RCV000925512] Chr11:125597049 [GRCh38]
Chr11:125466944 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.1672-9T>G single nucleotide variant not provided [RCV000927317] Chr11:125614315 [GRCh38]
Chr11:125484210 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.1775-5C>T single nucleotide variant not provided [RCV000875957] Chr11:125618368 [GRCh38]
Chr11:125488263 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.1722T>C (p.Asp574=) single nucleotide variant not provided [RCV000874942] Chr11:125614374 [GRCh38]
Chr11:125484269 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.651C>T (p.Asn217=) single nucleotide variant not provided [RCV000828181] Chr11:125606336 [GRCh38]
Chr11:125476231 [GRCh37]
Chr11:11q24.2		 likely benign
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_152713.5(STT3A):c.1774+8A>G single nucleotide variant not provided [RCV000827013] Chr11:125614434 [GRCh38]
Chr11:125484329 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.876A>G (p.Pro292=) single nucleotide variant not provided [RCV000965226] Chr11:125608204 [GRCh38]
Chr11:125478099 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.616-8C>T single nucleotide variant not provided [RCV000981209] Chr11:125606293 [GRCh38]
Chr11:125476188 [GRCh37]
Chr11:11q24.2		 likely benign
GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1 copy number loss See cases [RCV000790567] Chr11:120576984..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_152713.5(STT3A):c.1967G>A (p.Arg656His) single nucleotide variant not provided [RCV000817585] Chr11:125620014 [GRCh38]
Chr11:125489909 [GRCh37]
Chr11:11q24.2		 uncertain significance
GRCh37/hg19 11q24.2(chr11:125481301-125547902)x1 copy number loss not provided [RCV001006456] Chr11:125481301..125547902 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.149+19T>G single nucleotide variant not provided [RCV003104717] Chr11:125597138 [GRCh38]
Chr11:125467033 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.961+160G>C single nucleotide variant not provided [RCV001619147] Chr11:125608449 [GRCh38]
Chr11:125478344 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.780+183A>C single nucleotide variant not provided [RCV001688468] Chr11:125606648 [GRCh38]
Chr11:125476543 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.1365+71G>A single nucleotide variant not provided [RCV001637330] Chr11:125612818 [GRCh38]
Chr11:125482713 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.2080-51C>A single nucleotide variant not provided [RCV001598101] Chr11:125620721 [GRCh38]
Chr11:125490616 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.89-278G>T single nucleotide variant not provided [RCV001655942] Chr11:125596781 [GRCh38]
Chr11:125466676 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.961+25C>T single nucleotide variant STT3A-congenital disorder of glycosylation [RCV001815619]|not provided [RCV001714279] Chr11:125608314 [GRCh38]
Chr11:125478209 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.418-56G>A single nucleotide variant not provided [RCV001714280] Chr11:125604101 [GRCh38]
Chr11:125473996 [GRCh37]
Chr11:11q24.2		 benign
NC_000011.10:g.125592747G>A single nucleotide variant not provided [RCV001694200] Chr11:125592747 [GRCh38]
Chr11:125462642 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.616-85G>A single nucleotide variant not provided [RCV001670138] Chr11:125606216 [GRCh38]
Chr11:125476111 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.509-180T>A single nucleotide variant not provided [RCV001541776] Chr11:125605449 [GRCh38]
Chr11:125475344 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.271+39dup duplication not provided [RCV001766064] Chr11:125602453..125602454 [GRCh38]
Chr11:125472348..125472349 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.780+5G>A single nucleotide variant not provided [RCV000872162] Chr11:125606470 [GRCh38]
Chr11:125476365 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.48A>T (p.Thr16=) single nucleotide variant not provided [RCV000977560] Chr11:125595963 [GRCh38]
Chr11:125465858 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.246A>C (p.Arg82=) single nucleotide variant not provided [RCV000888301] Chr11:125602399 [GRCh38]
Chr11:125472294 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.1146G>A (p.Leu382=) single nucleotide variant not provided [RCV000870800] Chr11:125611456 [GRCh38]
Chr11:125481351 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.751T>G (p.Ser251Ala) single nucleotide variant not provided [RCV001207282] Chr11:125606436 [GRCh38]
Chr11:125476331 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1555-41_1555-40del deletion not provided [RCV001720817] Chr11:125614046..125614047 [GRCh38]
Chr11:125483941..125483942 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.-35-191C>T single nucleotide variant not provided [RCV001689310] Chr11:125595690 [GRCh38]
Chr11:125465585 [GRCh37]
Chr11:11q24.2		 benign
GRCh37/hg19 11q23.3-25(chr11:120531028-134257553) copy number loss 11q partial monosomy syndrome [RCV003236728] Chr11:120531028..134257553 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_152713.5(STT3A):c.272-82T>C single nucleotide variant not provided [RCV001594487] Chr11:125602721 [GRCh38]
Chr11:125472616 [GRCh37]
Chr11:11q24.2		 benign
GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1 copy number loss not provided [RCV001006452] Chr11:120742540..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.2(chr11:125202487-125610231)x1 copy number loss not provided [RCV001006455] Chr11:125202487..125610231 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1554+99G>T single nucleotide variant not provided [RCV001716758] Chr11:125613276 [GRCh38]
Chr11:125483171 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.1210-142G>A single nucleotide variant not provided [RCV001717003] Chr11:125612450 [GRCh38]
Chr11:125482345 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.1964-118A>C single nucleotide variant not provided [RCV001659380] Chr11:125619893 [GRCh38]
Chr11:125489788 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.1210-248A>C single nucleotide variant not provided [RCV001621640] Chr11:125612344 [GRCh38]
Chr11:125482239 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.780+209C>T single nucleotide variant not provided [RCV001639106] Chr11:125606674 [GRCh38]
Chr11:125476569 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.508+206T>C single nucleotide variant not provided [RCV001598066] Chr11:125604453 [GRCh38]
Chr11:125474348 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.1209+207G>A single nucleotide variant not provided [RCV001669394] Chr11:125611726 [GRCh38]
Chr11:125481621 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.1964-285A>G single nucleotide variant not provided [RCV001656526] Chr11:125619726 [GRCh38]
Chr11:125489621 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.88+103A>G single nucleotide variant not provided [RCV001717995] Chr11:125596106 [GRCh38]
Chr11:125466001 [GRCh37]
Chr11:11q24.2		 benign
Single allele deletion Paris-Trousseau thrombocytopenia [RCV001003843] Chr11:124226940..134944477 [GRCh37]
Chr11:11q24.2-25		 pathogenic
NM_152713.5(STT3A):c.616-154del deletion not provided [RCV001691940] Chr11:125606137 [GRCh38]
Chr11:125476032 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.-35-124C>T single nucleotide variant not provided [RCV001669016] Chr11:125595757 [GRCh38]
Chr11:125465652 [GRCh37]
Chr11:11q24.2		 benign
NC_000011.10:g.125592740C>T single nucleotide variant not provided [RCV001645720] Chr11:125592740 [GRCh38]
Chr11:125462635 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.780+286G>A single nucleotide variant not provided [RCV001671152] Chr11:125606751 [GRCh38]
Chr11:125476646 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.1555-97G>A single nucleotide variant not provided [RCV001667939] Chr11:125613990 [GRCh38]
Chr11:125483885 [GRCh37]
Chr11:11q24.2		 benign
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25		 likely pathogenic
NM_152713.5(STT3A):c.272-155G>A single nucleotide variant not provided [RCV001684528] Chr11:125602648 [GRCh38]
Chr11:125472543 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.781-117G>A single nucleotide variant not provided [RCV001662983] Chr11:125607992 [GRCh38]
Chr11:125477887 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.1775-8dup duplication STT3A-congenital disorder of glycosylation [RCV002503165]|not provided [RCV001710936] Chr11:125618352..125618353 [GRCh38]
Chr11:125488247..125488248 [GRCh37]
Chr11:11q24.2		 benign|likely benign
NM_152713.5(STT3A):c.418-288A>G single nucleotide variant not provided [RCV001666366] Chr11:125603869 [GRCh38]
Chr11:125473764 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.*81dup duplication not provided [RCV001690559] Chr11:125620870..125620871 [GRCh38]
Chr11:125490765..125490766 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.961+55C>T single nucleotide variant not provided [RCV001672036] Chr11:125608344 [GRCh38]
Chr11:125478239 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.150-156G>C single nucleotide variant not provided [RCV001666780] Chr11:125602147 [GRCh38]
Chr11:125472042 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.508+190T>C single nucleotide variant not provided [RCV001670890] Chr11:125604437 [GRCh38]
Chr11:125474332 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.271+29T>A single nucleotide variant not provided [RCV001666665] Chr11:125602453 [GRCh38]
Chr11:125472348 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.815G>C (p.Gly272Ala) single nucleotide variant not provided [RCV001071589] Chr11:125608143 [GRCh38]
Chr11:125478038 [GRCh37]
Chr11:11q24.2		 uncertain significance
GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1 copy number loss not provided [RCV001006454] Chr11:124232608..134938470 [GRCh37]
Chr11:11q24.2-25		 pathogenic
NM_152713.5(STT3A):c.904G>A (p.Val302Ile) single nucleotide variant Microcephaly [RCV001252839]|not provided [RCV003558638] Chr11:125608232 [GRCh38]
Chr11:125478127 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.961G>A (p.Gly321Arg) single nucleotide variant Congenital disorder of glycosylation, type Iw, autosomal dominant [RCV002280294] Chr11:125608289 [GRCh38]
Chr11:125478184 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.223C>T (p.Arg75Ter) single nucleotide variant Congenital disorder of glycosylation type 1w [RCV001336344] Chr11:125602376 [GRCh38]
Chr11:125472271 [GRCh37]
Chr11:11q24.2		 pathogenic
NM_152713.5(STT3A):c.1671+6A>C single nucleotide variant not provided [RCV001326230] Chr11:125614209 [GRCh38]
Chr11:125484104 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.946C>T (p.Leu316Phe) single nucleotide variant not provided [RCV001371179] Chr11:125608274 [GRCh38]
Chr11:125478169 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.415A>C (p.Lys139Gln) single nucleotide variant STT3A-congenital disorder of glycosylation [RCV001328774] Chr11:125602946 [GRCh38]
Chr11:125472841 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.83T>C (p.Val28Ala) single nucleotide variant not provided [RCV001308768] Chr11:125595998 [GRCh38]
Chr11:125465893 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1366-3T>A single nucleotide variant not provided [RCV001308109] Chr11:125612986 [GRCh38]
Chr11:125482881 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.210C>T (p.Asn70=) single nucleotide variant not provided [RCV001407181] Chr11:125602363 [GRCh38]
Chr11:125472258 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.509-81G>A single nucleotide variant not provided [RCV001535017] Chr11:125605548 [GRCh38]
Chr11:125475443 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.509-84C>G single nucleotide variant not provided [RCV001536386] Chr11:125605545 [GRCh38]
Chr11:125475440 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.81T>C (p.Ala27=) single nucleotide variant not provided [RCV001450893] Chr11:125595996 [GRCh38]
Chr11:125465891 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.1963+21_1963+26del deletion not provided [RCV001515136] Chr11:125618577..125618582 [GRCh38]
Chr11:125488472..125488477 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.-36+938TGT[3] microsatellite not provided [RCV001717035] Chr11:125593856..125593858 [GRCh38]
Chr11:125463751..125463753 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.150-137T>C single nucleotide variant not provided [RCV001714276] Chr11:125602166 [GRCh38]
Chr11:125472061 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.961+284G>A single nucleotide variant not provided [RCV001687553] Chr11:125608573 [GRCh38]
Chr11:125478468 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.149+318dup duplication not provided [RCV001614281] Chr11:125597421..125597422 [GRCh38]
Chr11:125467316..125467317 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.1323G>A (p.Lys441=) single nucleotide variant not provided [RCV001443180] Chr11:125612705 [GRCh38]
Chr11:125482600 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.271+123C>T single nucleotide variant not provided [RCV001527881] Chr11:125602547 [GRCh38]
Chr11:125472442 [GRCh37]
Chr11:11q24.2		 benign
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
NM_152713.5(STT3A):c.1310G>A (p.Arg437His) single nucleotide variant STT3A-congenital disorder of glycosylation [RCV001725850] Chr11:125612692 [GRCh38]
Chr11:125482587 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.509-215T>C single nucleotide variant not provided [RCV001769551] Chr11:125605414 [GRCh38]
Chr11:125475309 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.*81del deletion not provided [RCV001769679] Chr11:125620871 [GRCh38]
Chr11:125490766 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.1118-62T>C single nucleotide variant not provided [RCV001786190] Chr11:125611366 [GRCh38]
Chr11:125481261 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.1117+145T>C single nucleotide variant not provided [RCV001786230] Chr11:125609734 [GRCh38]
Chr11:125479629 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.271+30A>T single nucleotide variant not provided [RCV001759388] Chr11:125602454 [GRCh38]
Chr11:125472349 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.1365+37TG[6] microsatellite not provided [RCV001800080] Chr11:125612784..125612785 [GRCh38]
Chr11:125482679..125482680 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.137A>G (p.His46Arg) single nucleotide variant Congenital disorder of glycosylation, type Iw, autosomal dominant [RCV001815047] Chr11:125597107 [GRCh38]
Chr11:125467002 [GRCh37]
Chr11:11q24.2		 pathogenic|likely pathogenic
NC_000011.10:g.125592739A>G single nucleotide variant not provided [RCV001759272] Chr11:125592739 [GRCh38]
Chr11:125462634 [GRCh37]
Chr11:11q24.2		 likely benign
NC_000011.10:g.125592721T>A single nucleotide variant not provided [RCV001752967] Chr11:125592721 [GRCh38]
Chr11:125462616 [GRCh37]
Chr11:11q24.2		 likely benign
NC_000011.10:g.125592720T>G single nucleotide variant not provided [RCV001800055] Chr11:125592720 [GRCh38]
Chr11:125462615 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.479G>A (p.Arg160Gln) single nucleotide variant Congenital disorder of glycosylation, type Iw, autosomal dominant [RCV001815048] Chr11:125604218 [GRCh38]
Chr11:125474113 [GRCh37]
Chr11:11q24.2		 pathogenic|likely pathogenic
NM_152713.5(STT3A):c.1213C>T (p.Arg405Cys) single nucleotide variant Congenital disorder of glycosylation, type Iw, autosomal dominant [RCV001815049] Chr11:125612595 [GRCh38]
Chr11:125482490 [GRCh37]
Chr11:11q24.2		 pathogenic
NM_152713.5(STT3A):c.1589A>C (p.Tyr530Ser) single nucleotide variant Congenital disorder of glycosylation, type Iw, autosomal dominant [RCV001815046] Chr11:125614121 [GRCh38]
Chr11:125484016 [GRCh37]
Chr11:11q24.2		 pathogenic|uncertain significance
NM_152713.5(STT3A):c.1637C>T (p.Thr546Ile) single nucleotide variant Congenital disorder of glycosylation, type Iw, autosomal dominant [RCV001815045] Chr11:125614169 [GRCh38]
Chr11:125484064 [GRCh37]
Chr11:11q24.2		 pathogenic|uncertain significance
NM_152713.5(STT3A):c.1214G>A (p.Arg405His) single nucleotide variant Congenital disorder of glycosylation, type Iw, autosomal dominant [RCV001815050] Chr11:125612596 [GRCh38]
Chr11:125482491 [GRCh37]
Chr11:11q24.2		 pathogenic|likely pathogenic
NM_152713.5(STT3A):c.985C>T (p.Arg329Cys) single nucleotide variant Congenital disorder of glycosylation, type Iw, autosomal dominant [RCV001815051] Chr11:125609457 [GRCh38]
Chr11:125479352 [GRCh37]
Chr11:11q24.2		 pathogenic|uncertain significance
NM_152713.5(STT3A):c.615+6T>C single nucleotide variant STT3A-related disorder [RCV003913445]|not provided [RCV001928513] Chr11:125605741 [GRCh38]
Chr11:125475636 [GRCh37]
Chr11:11q24.2		 likely benign|uncertain significance
NC_000011.9:g.(?_123504851)_(126163012_?)dup duplication Holoprosencephaly 11 [RCV001871151] Chr11:123504851..126163012 [GRCh37]
Chr11:11q24.1-24.2		 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_152713.5(STT3A):c.1684A>C (p.Thr562Pro) single nucleotide variant Inborn genetic diseases [RCV002608093]|not provided [RCV001984300] Chr11:125614336 [GRCh38]
Chr11:125484231 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.184G>A (p.Glu62Lys) single nucleotide variant Inborn genetic diseases [RCV004042127]|not provided [RCV001952850] Chr11:125602337 [GRCh38]
Chr11:125472232 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.149+16T>C single nucleotide variant not provided [RCV001960751] Chr11:125597135 [GRCh38]
Chr11:125467030 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.2090T>C (p.Leu697Pro) single nucleotide variant not provided [RCV001905527] Chr11:125620782 [GRCh38]
Chr11:125490677 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.701A>G (p.His234Arg) single nucleotide variant not provided [RCV002026241] Chr11:125606386 [GRCh38]
Chr11:125476281 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.898C>T (p.Arg300Trp) single nucleotide variant not provided [RCV002048293] Chr11:125608226 [GRCh38]
Chr11:125478121 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.961+19T>C single nucleotide variant not provided [RCV002188874] Chr11:125608308 [GRCh38]
Chr11:125478203 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.271+29dup duplication not provided [RCV002212278] Chr11:125602442..125602443 [GRCh38]
Chr11:125472337..125472338 [GRCh37]
Chr11:11q24.2		 benign
NM_152713.5(STT3A):c.795A>G (p.Ser265=) single nucleotide variant not provided [RCV002171100] Chr11:125608123 [GRCh38]
Chr11:125478018 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.1125C>T (p.Leu375=) single nucleotide variant not provided [RCV002152811] Chr11:125611435 [GRCh38]
Chr11:125481330 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.387C>T (p.Ile129=) single nucleotide variant not provided [RCV002163727] Chr11:125602918 [GRCh38]
Chr11:125472813 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.1365+11A>G single nucleotide variant not provided [RCV002219308] Chr11:125612758 [GRCh38]
Chr11:125482653 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.846T>C (p.Phe282=) single nucleotide variant not provided [RCV002219796] Chr11:125608174 [GRCh38]
Chr11:125478069 [GRCh37]
Chr11:11q24.2		 likely benign
NC_000011.9:g.(?_123504851)_(126163012_?)del deletion Holoprosencephaly 11 [RCV003119757]|not provided [RCV003119756] Chr11:123504851..126163012 [GRCh37]
Chr11:11q24.1-24.2		 uncertain significance|no classifications from unflagged records
NM_152713.5(STT3A):c.1213C>A (p.Arg405Ser) single nucleotide variant Congenital disorder of glycosylation, type Iw, autosomal dominant [RCV003225865] Chr11:125612595 [GRCh38]
Chr11:125482490 [GRCh37]
Chr11:11q24.2		 likely pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_152713.5(STT3A):c.616-203T>C single nucleotide variant not provided [RCV002286310] Chr11:125606098 [GRCh38]
Chr11:125475993 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.509-169G>A single nucleotide variant not provided [RCV002285612] Chr11:125605460 [GRCh38]
Chr11:125475355 [GRCh37]
Chr11:11q24.2		 likely benign
GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1 copy number loss not provided [RCV002474497] Chr11:122975824..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
NM_152713.5(STT3A):c.1458G>A (p.Pro486=) single nucleotide variant not provided [RCV003013551] Chr11:125613081 [GRCh38]
Chr11:125482976 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.251T>C (p.Ile84Thr) single nucleotide variant Congenital disorder of glycosylation, type Iw, autosomal dominant [RCV002512488] Chr11:125602404 [GRCh38]
Chr11:125472299 [GRCh37]
Chr11:11q24.2		 likely pathogenic
NM_152713.5(STT3A):c.1926G>A (p.Met642Ile) single nucleotide variant Inborn genetic diseases [RCV002905347] Chr11:125618524 [GRCh38]
Chr11:125488419 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1352C>T (p.Pro451Leu) single nucleotide variant Inborn genetic diseases [RCV002817414] Chr11:125612734 [GRCh38]
Chr11:125482629 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1071G>T (p.Trp357Cys) single nucleotide variant Inborn genetic diseases [RCV002827410] Chr11:125609543 [GRCh38]
Chr11:125479438 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.632G>A (p.Gly211Asp) single nucleotide variant not provided [RCV002850855] Chr11:125606317 [GRCh38]
Chr11:125476212 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1720G>A (p.Asp574Asn) single nucleotide variant not provided [RCV002765858] Chr11:125614372 [GRCh38]
Chr11:125484267 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1815C>G (p.Ser605Arg) single nucleotide variant not provided [RCV003082334] Chr11:125618413 [GRCh38]
Chr11:125488308 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.962G>C (p.Gly321Ala) single nucleotide variant Inborn genetic diseases [RCV002807524] Chr11:125609434 [GRCh38]
Chr11:125479329 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1286A>C (p.Tyr429Ser) single nucleotide variant Inborn genetic diseases [RCV002809443] Chr11:125612668 [GRCh38]
Chr11:125482563 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.65T>C (p.Ile22Thr) single nucleotide variant Inborn genetic diseases [RCV002808645] Chr11:125595980 [GRCh38]
Chr11:125465875 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.701A>C (p.His234Pro) single nucleotide variant Inborn genetic diseases [RCV003010900] Chr11:125606386 [GRCh38]
Chr11:125476281 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1044T>C (p.Ser348=) single nucleotide variant not provided [RCV003011509] Chr11:125609516 [GRCh38]
Chr11:125479411 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.271+19T>C single nucleotide variant not provided [RCV003030914] Chr11:125602443 [GRCh38]
Chr11:125472338 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.967A>G (p.Ile323Val) single nucleotide variant not provided [RCV002580893] Chr11:125609439 [GRCh38]
Chr11:125479334 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1951T>G (p.Tyr651Asp) single nucleotide variant Inborn genetic diseases [RCV002717874] Chr11:125618549 [GRCh38]
Chr11:125488444 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.244C>G (p.Arg82Gly) single nucleotide variant Inborn genetic diseases [RCV002855844] Chr11:125602397 [GRCh38]
Chr11:125472292 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.859C>T (p.Arg287Cys) single nucleotide variant Inborn genetic diseases [RCV002655098] Chr11:125608187 [GRCh38]
Chr11:125478082 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1537C>T (p.Arg513Cys) single nucleotide variant not provided [RCV002610737] Chr11:125613160 [GRCh38]
Chr11:125483055 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.448A>G (p.Met150Val) single nucleotide variant Inborn genetic diseases [RCV003210214] Chr11:125604187 [GRCh38]
Chr11:125474082 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.388G>A (p.Val130Ile) single nucleotide variant Inborn genetic diseases [RCV003205967] Chr11:125602919 [GRCh38]
Chr11:125472814 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1679C>T (p.Ala560Val) single nucleotide variant Inborn genetic diseases [RCV003209198] Chr11:125614331 [GRCh38]
Chr11:125484226 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.164G>A (p.Arg55Gln) single nucleotide variant Inborn genetic diseases [RCV003202355] Chr11:125602317 [GRCh38]
Chr11:125472212 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.691C>T (p.Arg231Cys) single nucleotide variant Inborn genetic diseases [RCV003199574] Chr11:125606376 [GRCh38]
Chr11:125476271 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1559C>T (p.Ala520Val) single nucleotide variant Inborn genetic diseases [RCV003173136] Chr11:125614091 [GRCh38]
Chr11:125483986 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.706A>G (p.Ile236Val) single nucleotide variant Inborn genetic diseases [RCV003384810] Chr11:125606391 [GRCh38]
Chr11:125476286 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1841A>G (p.Glu614Gly) single nucleotide variant Congenital disorder of glycosylation, type Iw, autosomal dominant [RCV003333492] Chr11:125618439 [GRCh38]
Chr11:125488334 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.105G>A (p.Leu35=) single nucleotide variant not provided [RCV003874662] Chr11:125597075 [GRCh38]
Chr11:125466970 [GRCh37]
Chr11:11q24.2		 likely benign
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
GRCh37/hg19 11q24.2(chr11:125208533-125519800)x1 copy number loss not provided [RCV003483143] Chr11:125208533..125519800 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1210-19T>C single nucleotide variant not provided [RCV003687277] Chr11:125612573 [GRCh38]
Chr11:125482468 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.860G>T (p.Arg287Leu) single nucleotide variant not provided [RCV003690412] Chr11:125608188 [GRCh38]
Chr11:125478083 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1631A>G (p.Asn544Ser) single nucleotide variant Congenital disorder of glycosylation, type Iw, autosomal dominant [RCV003493389]|Inborn genetic diseases [RCV004364905] Chr11:125614163 [GRCh38]
Chr11:125484058 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.2026G>A (p.Asp676Asn) single nucleotide variant not provided [RCV003664871] Chr11:125620073 [GRCh38]
Chr11:125489968 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1101C>T (p.Leu367=) single nucleotide variant STT3A-related disorder [RCV003946741]|not provided [RCV003557940] Chr11:125609573 [GRCh38]
Chr11:125479468 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.1215T>C (p.Arg405=) single nucleotide variant not provided [RCV003724395] Chr11:125612597 [GRCh38]
Chr11:125482492 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.1723G>A (p.Val575Ile) single nucleotide variant not provided [RCV003697623] Chr11:125614375 [GRCh38]
Chr11:125484270 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.961+4G>A single nucleotide variant not provided [RCV003859859] Chr11:125608293 [GRCh38]
Chr11:125478188 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1671+12G>C single nucleotide variant not provided [RCV003676790] Chr11:125614215 [GRCh38]
Chr11:125484110 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.1095G>A (p.Gln365=) single nucleotide variant not provided [RCV003721826] Chr11:125609567 [GRCh38]
Chr11:125479462 [GRCh37]
Chr11:11q24.2		 likely benign
GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1 copy number loss not specified [RCV003986915] Chr11:121183636..127620828 [GRCh37]
Chr11:11q23.3-24.2		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1 copy number loss not specified [RCV003986947] Chr11:123523103..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1 copy number loss not specified [RCV003986923] Chr11:121423232..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
NM_152713.5(STT3A):c.1791T>C (p.Leu597=) single nucleotide variant not provided [RCV003727186] Chr11:125618389 [GRCh38]
Chr11:125488284 [GRCh37]
Chr11:11q24.2		 likely benign
GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3 copy number gain not provided [RCV004442759] Chr11:116683755..134937416 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_152713.5(STT3A):c.672C>T (p.Leu224=) single nucleotide variant STT3A-related disorder [RCV003959032] Chr11:125606357 [GRCh38]
Chr11:125476252 [GRCh37]
Chr11:11q24.2		 likely benign
NM_152713.5(STT3A):c.544A>G (p.Met182Val) single nucleotide variant STT3A-congenital disorder of glycosylation [RCV003990542] Chr11:125605664 [GRCh38]
Chr11:125475559 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.191G>T (p.Gly64Val) single nucleotide variant Inborn genetic diseases [RCV004458562] Chr11:125602344 [GRCh38]
Chr11:125472239 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1966C>T (p.Arg656Cys) single nucleotide variant Inborn genetic diseases [RCV004458563] Chr11:125620013 [GRCh38]
Chr11:125489908 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1109T>C (p.Met370Thr) single nucleotide variant Inborn genetic diseases [RCV004458559] Chr11:125609581 [GRCh38]
Chr11:125479476 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1568T>C (p.Met523Thr) single nucleotide variant Inborn genetic diseases [RCV004458560] Chr11:125614100 [GRCh38]
Chr11:125483995 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.280A>G (p.Ile94Val) single nucleotide variant Inborn genetic diseases [RCV004458565] Chr11:125602811 [GRCh38]
Chr11:125472706 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.1139G>A (p.Ser380Asn) single nucleotide variant Inborn genetic diseases [RCV004668218] Chr11:125611449 [GRCh38]
Chr11:125481344 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_152713.5(STT3A):c.68T>C (p.Leu23Pro) single nucleotide variant Inborn genetic diseases [RCV004668219] Chr11:125595983 [GRCh38]
Chr11:125465878 [GRCh37]
Chr11:11q24.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2938
Count of miRNA genes:1052
Interacting mature miRNAs:1291
Transcripts:ENST00000392708, ENST00000524639, ENST00000525431, ENST00000525652, ENST00000525946, ENST00000526213, ENST00000526364, ENST00000526726, ENST00000527456, ENST00000527606, ENST00000529196, ENST00000529886, ENST00000531001, ENST00000531491, ENST00000531599, ENST00000534472
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407181973GWAS830949_Hlymphocyte measurement QTL GWAS830949 (human)8e-09lymphocyte measurement11125591892125591893Human
407292114GWAS941090_Hbody height QTL GWAS941090 (human)3e-17body height (VT:0001253)body height (CMO:0000106)11125619726125619727Human
406958663GWAS607639_Hattention deficit hyperactivity disorder, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia QTL GWAS607639 (human)0.0000009attention deficit hyperactivity disorder, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia11125591814125591815Human
406997419GWAS646395_Hmean corpuscular hemoglobin concentration QTL GWAS646395 (human)6e-11mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)11125595392125595393Human
1559115SCL20_HSerum cholesterol level QTL 20 (human)3.220.001213Lipid levelLDL cholesterol11100442501126442501Human
407030463GWAS679439_Hvital capacity QTL GWAS679439 (human)1e-08vital capacity11125591893125591894Human
407224811GWAS873787_Hschizophrenia QTL GWAS873787 (human)0.000001schizophrenia11125591814125591815Human

Markers in Region
RH92949  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711125,490,927 - 125,491,059UniSTSGRCh37
Build 3611124,996,137 - 124,996,269RGDNCBI36
Celera11122,651,237 - 122,651,369RGD
Cytogenetic Map11q23.3UniSTS
HuRef11121,432,295 - 121,432,427UniSTS
GeneMap99-GB4 RH Map11415.6UniSTS
G19658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711125,490,688 - 125,490,813UniSTSGRCh37
Build 3611124,995,898 - 124,996,023RGDNCBI36
Celera11122,650,998 - 122,651,123RGD
Cytogenetic Map11q23.3UniSTS
HuRef11121,432,056 - 121,432,181UniSTS
A001U15  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711125,490,688 - 125,490,813UniSTSGRCh37
Build 3611124,995,898 - 124,996,023RGDNCBI36
Celera11122,650,998 - 122,651,123RGD
Cytogenetic Map11q23.3UniSTS
HuRef11121,432,056 - 121,432,181UniSTS
GeneMap99-GB4 RH Map11415.6UniSTS
STS-R68805  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711125,491,033 - 125,491,200UniSTSGRCh37
Build 3611124,996,243 - 124,996,410RGDNCBI36
Celera11122,651,343 - 122,651,510RGD
Cytogenetic Map11q23.3UniSTS
HuRef11121,432,401 - 121,432,568UniSTS
GeneMap99-GB4 RH Map11415.91UniSTS
NCBI RH Map111063.8UniSTS
MARC_15709-15710:1013524713:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711125,472,226 - 125,472,758UniSTSGRCh37
Build 3611124,977,436 - 124,977,968RGDNCBI36
Celera11122,632,536 - 122,633,068RGD
HuRef11121,413,781 - 121,414,313UniSTS
D11S4593  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q23.3UniSTS
HuRef11121,432,081 - 121,432,202UniSTS
Stanford-G3 RH Map115660.0UniSTS
GeneMap99-G3 RH Map115660.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2435 2788 2249 4956 1725 2351 6 624 1950 465 2269 7296 6466 53 3718 1 851 1742 1616 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK130548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE503634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM667548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX649102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA577274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L38961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L47337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000392708   ⟹   ENSP00000376472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,592,852 - 125,623,091 (+)Ensembl
Ensembl Acc Id: ENST00000524639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,609,419 - 125,613,151 (+)Ensembl
Ensembl Acc Id: ENST00000525431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,606,210 - 125,608,404 (+)Ensembl
Ensembl Acc Id: ENST00000525652   ⟹   ENSP00000435810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,593,169 - 125,602,839 (+)Ensembl
Ensembl Acc Id: ENST00000525946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,613,684 - 125,621,226 (+)Ensembl
Ensembl Acc Id: ENST00000526213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,602,757 - 125,606,465 (+)Ensembl
Ensembl Acc Id: ENST00000526364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,618,518 - 125,625,215 (+)Ensembl
Ensembl Acc Id: ENST00000526726   ⟹   ENSP00000436523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,606,413 - 125,613,070 (+)Ensembl
Ensembl Acc Id: ENST00000527456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,603,377 - 125,606,465 (+)Ensembl
Ensembl Acc Id: ENST00000527606   ⟹   ENSP00000436558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,591,712 - 125,602,889 (+)Ensembl
Ensembl Acc Id: ENST00000529196   ⟹   ENSP00000436962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,592,836 - 125,620,888 (+)Ensembl
Ensembl Acc Id: ENST00000529886   ⟹   ENSP00000432912
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,594,863 - 125,602,884 (+)Ensembl
Ensembl Acc Id: ENST00000531001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,608,148 - 125,609,736 (+)Ensembl
Ensembl Acc Id: ENST00000531491   ⟹   ENSP00000432820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,592,867 - 125,620,888 (+)Ensembl
Ensembl Acc Id: ENST00000531599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,610,709 - 125,613,140 (+)Ensembl
Ensembl Acc Id: ENST00000534472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,592,819 - 125,609,898 (+)Ensembl
Ensembl Acc Id: ENST00000649491   ⟹   ENSP00000497336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,592,858 - 125,622,721 (+)Ensembl
RefSeq Acc Id: NM_001278503   ⟹   NP_001265432
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,592,852 - 125,623,091 (+)NCBI
HuRef11121,404,246 - 121,434,022 (+)NCBI
CHM1_111125,348,849 - 125,378,778 (+)NCBI
T2T-CHM13v2.011125,621,509 - 125,651,713 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278504   ⟹   NP_001265433
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,592,852 - 125,623,091 (+)NCBI
GRCh3711125,462,690 - 125,492,654 (+)NCBI
HuRef11121,404,246 - 121,434,022 (+)NCBI
CHM1_111125,348,849 - 125,378,778 (+)NCBI
T2T-CHM13v2.011125,621,509 - 125,651,713 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152713   ⟹   NP_689926
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,592,852 - 125,623,091 (+)NCBI
GRCh3711125,462,690 - 125,492,654 (+)NCBI
Build 3611124,967,967 - 124,996,168 (+)NCBI Archive
Celera11122,623,051 - 122,651,590 (+)RGD
HuRef11121,404,246 - 121,434,022 (+)NCBI
CHM1_111125,348,849 - 125,378,778 (+)NCBI
T2T-CHM13v2.011125,621,509 - 125,651,713 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542807   ⟹   XP_011541109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,592,852 - 125,623,091 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047426895   ⟹   XP_047282851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,592,852 - 125,623,091 (+)NCBI
RefSeq Acc Id: XM_047426896   ⟹   XP_047282852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,592,852 - 125,623,091 (+)NCBI
RefSeq Acc Id: XM_047426897   ⟹   XP_047282853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,591,769 - 125,623,091 (+)NCBI
RefSeq Acc Id: XM_047426898   ⟹   XP_047282854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,592,852 - 125,609,970 (+)NCBI
RefSeq Acc Id: XM_054368692   ⟹   XP_054224667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011125,621,493 - 125,651,713 (+)NCBI
RefSeq Acc Id: XM_054368693   ⟹   XP_054224668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011125,621,509 - 125,651,713 (+)NCBI
RefSeq Acc Id: XM_054368694   ⟹   XP_054224669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011125,621,509 - 125,651,713 (+)NCBI
RefSeq Acc Id: XM_054368695   ⟹   XP_054224670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011125,621,509 - 125,638,623 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001265432 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265433 (Get FASTA)   NCBI Sequence Viewer  
  NP_689926 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541109 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282851 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282852 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282853 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282854 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224667 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224668 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224669 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224670 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB05994 (Get FASTA)   NCBI Sequence Viewer  
  AAH20965 (Get FASTA)   NCBI Sequence Viewer  
  AAH48348 (Get FASTA)   NCBI Sequence Viewer  
  AAL77539 (Get FASTA)   NCBI Sequence Viewer  
  AAP35764 (Get FASTA)   NCBI Sequence Viewer  
  BAF82729 (Get FASTA)   NCBI Sequence Viewer  
  BAF83346 (Get FASTA)   NCBI Sequence Viewer  
  BAG58686 (Get FASTA)   NCBI Sequence Viewer  
  CAH05572 (Get FASTA)   NCBI Sequence Viewer  
  EAW67647 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000376472
  ENSP00000376472.3
  ENSP00000432820
  ENSP00000432820.1
  ENSP00000432912.1
  ENSP00000435810.1
  ENSP00000436523.1
  ENSP00000436558.1
  ENSP00000436962
  ENSP00000436962.1
  ENSP00000497336.1
GenBank Protein P46977 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_689926   ⟸   NM_152713
- Peptide Label: isoform a
- UniProtKB: Q8TE35 (UniProtKB/Swiss-Prot),   Q86XU9 (UniProtKB/Swiss-Prot),   E9PNQ1 (UniProtKB/Swiss-Prot),   B4DJ24 (UniProtKB/Swiss-Prot),   Q8WUB4 (UniProtKB/Swiss-Prot),   P46977 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265432   ⟸   NM_001278503
- Peptide Label: isoform a
- UniProtKB: Q8TE35 (UniProtKB/Swiss-Prot),   Q86XU9 (UniProtKB/Swiss-Prot),   E9PNQ1 (UniProtKB/Swiss-Prot),   B4DJ24 (UniProtKB/Swiss-Prot),   Q8WUB4 (UniProtKB/Swiss-Prot),   P46977 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265433   ⟸   NM_001278504
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: XP_011541109   ⟸   XM_011542807
- Peptide Label: isoform X1
- UniProtKB: Q8TE35 (UniProtKB/Swiss-Prot),   Q86XU9 (UniProtKB/Swiss-Prot),   E9PNQ1 (UniProtKB/Swiss-Prot),   B4DJ24 (UniProtKB/Swiss-Prot),   Q8WUB4 (UniProtKB/Swiss-Prot),   P46977 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000497336   ⟸   ENST00000649491
Ensembl Acc Id: ENSP00000432820   ⟸   ENST00000531491
Ensembl Acc Id: ENSP00000376472   ⟸   ENST00000392708
Ensembl Acc Id: ENSP00000435810   ⟸   ENST00000525652
Ensembl Acc Id: ENSP00000436523   ⟸   ENST00000526726
Ensembl Acc Id: ENSP00000436558   ⟸   ENST00000527606
Ensembl Acc Id: ENSP00000432912   ⟸   ENST00000529886
Ensembl Acc Id: ENSP00000436962   ⟸   ENST00000529196
RefSeq Acc Id: XP_047282853   ⟸   XM_047426897
- Peptide Label: isoform X1
- UniProtKB: Q8TE35 (UniProtKB/Swiss-Prot),   Q86XU9 (UniProtKB/Swiss-Prot),   P46977 (UniProtKB/Swiss-Prot),   E9PNQ1 (UniProtKB/Swiss-Prot),   B4DJ24 (UniProtKB/Swiss-Prot),   Q8WUB4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047282851   ⟸   XM_047426895
- Peptide Label: isoform X1
- UniProtKB: Q8TE35 (UniProtKB/Swiss-Prot),   Q86XU9 (UniProtKB/Swiss-Prot),   P46977 (UniProtKB/Swiss-Prot),   E9PNQ1 (UniProtKB/Swiss-Prot),   B4DJ24 (UniProtKB/Swiss-Prot),   Q8WUB4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047282852   ⟸   XM_047426896
- Peptide Label: isoform X1
- UniProtKB: Q8TE35 (UniProtKB/Swiss-Prot),   Q86XU9 (UniProtKB/Swiss-Prot),   P46977 (UniProtKB/Swiss-Prot),   E9PNQ1 (UniProtKB/Swiss-Prot),   B4DJ24 (UniProtKB/Swiss-Prot),   Q8WUB4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047282854   ⟸   XM_047426898
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054224667   ⟸   XM_054368692
- Peptide Label: isoform X1
- UniProtKB: Q8TE35 (UniProtKB/Swiss-Prot),   Q86XU9 (UniProtKB/Swiss-Prot),   P46977 (UniProtKB/Swiss-Prot),   E9PNQ1 (UniProtKB/Swiss-Prot),   B4DJ24 (UniProtKB/Swiss-Prot),   Q8WUB4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054224669   ⟸   XM_054368694
- Peptide Label: isoform X1
- UniProtKB: Q8TE35 (UniProtKB/Swiss-Prot),   Q86XU9 (UniProtKB/Swiss-Prot),   P46977 (UniProtKB/Swiss-Prot),   E9PNQ1 (UniProtKB/Swiss-Prot),   B4DJ24 (UniProtKB/Swiss-Prot),   Q8WUB4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054224668   ⟸   XM_054368693
- Peptide Label: isoform X1
- UniProtKB: Q8TE35 (UniProtKB/Swiss-Prot),   Q86XU9 (UniProtKB/Swiss-Prot),   P46977 (UniProtKB/Swiss-Prot),   E9PNQ1 (UniProtKB/Swiss-Prot),   B4DJ24 (UniProtKB/Swiss-Prot),   Q8WUB4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054224670   ⟸   XM_054368695
- Peptide Label: isoform X2
Protein Domains
Oligosaccharyl transferase STT3 N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P46977-F1-model_v2 AlphaFold P46977 1-705 view protein structure

Promoters
RGD ID:6789411
Promoter ID:HG_KWN:14517
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_152713,   UC001QCE.1,   UC009ZBM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611124,966,956 - 124,968,057 (+)MPROMDB
RGD ID:7222541
Promoter ID:EPDNEW_H17016
Type:initiation region
Name:STT3A_1
Description:STT3A, catalytic subunit of the oligosaccharyltransferase complex
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
GRCh3811125,592,867 - 125,592,927EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6172 AgrOrtholog
COSMIC STT3A COSMIC
Ensembl Genes ENSG00000134910 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000392708 ENTREZGENE
  ENST00000392708.9 UniProtKB/Swiss-Prot
  ENST00000525652.5 UniProtKB/TrEMBL
  ENST00000526726.1 UniProtKB/TrEMBL
  ENST00000527606.5 UniProtKB/TrEMBL
  ENST00000529196 ENTREZGENE
  ENST00000529196.5 UniProtKB/Swiss-Prot
  ENST00000529886.1 UniProtKB/TrEMBL
  ENST00000531491 ENTREZGENE
  ENST00000531491.5 UniProtKB/Swiss-Prot
  ENST00000534472 ENTREZGENE
  ENST00000649491.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.12610 UniProtKB/Swiss-Prot
GTEx ENSG00000134910 GTEx
HGNC ID HGNC:6172 ENTREZGENE
Human Proteome Map STT3A Human Proteome Map
InterPro Oligo_trans_STT3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STT3_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3703 UniProtKB/Swiss-Prot
NCBI Gene 3703 ENTREZGENE
OMIM 601134 OMIM
PANTHER DOLICHYL-DIPHOSPHOOLIGOSACCHARIDE--PROTEIN GLYCOSYLTRANSFERASE SUBUNIT STT3A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13872 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AglB_core-like UniProtKB/Swiss-Prot
  STT3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29969 PharmGKB
UniProt A0A0C4DH80_HUMAN UniProtKB/TrEMBL
  B4DJ24 ENTREZGENE
  E9PI32_HUMAN UniProtKB/TrEMBL
  E9PN73_HUMAN UniProtKB/TrEMBL
  E9PNQ1 ENTREZGENE
  H0YET6_HUMAN UniProtKB/TrEMBL
  P46977 ENTREZGENE
  Q86XU9 ENTREZGENE
  Q8TE35 ENTREZGENE
  Q8WUB4 ENTREZGENE
  STT3A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DJ24 UniProtKB/Swiss-Prot
  E9PNQ1 UniProtKB/Swiss-Prot
  Q86XU9 UniProtKB/Swiss-Prot
  Q8TE35 UniProtKB/Swiss-Prot
  Q8WUB4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 STT3A  STT3 oligosaccharyltransferase complex catalytic subunit A    STT3A, catalytic subunit of the oligosaccharyltransferase complex  Symbol and/or name change 5135510 APPROVED
2016-02-18 STT3A  STT3A, catalytic subunit of the oligosaccharyltransferase complex    STT3A, subunit of the oligosaccharyltransferase complex (catalytic)  Symbol and/or name change 5135510 APPROVED
2013-03-12 STT3A  STT3A, subunit of the oligosaccharyltransferase complex (catalytic)    STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED