GLUL (glutamate-ammonia ligase) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: GLUL (glutamate-ammonia ligase) Homo sapiens
Analyze
Symbol: GLUL
Name: glutamate-ammonia ligase
RGD ID: 730955
HGNC Page HGNC:4341
Description: Enables glutamine synthetase activity; identical protein binding activity; and protein-cysteine S-palmitoyltransferase activity. Involved in several processes, including protein palmitoylation; regulation of protein localization to nucleolus; and regulation of sprouting angiogenesis. Located in cytosol and plasma membrane. Implicated in Alzheimer's disease; Huntington's disease; congenital glutamine deficiency; developmental and epileptic encephalopathy 116; and heart disease. Biomarker of Alzheimer's disease; liver disease (multiple); primary open angle glaucoma; schizophrenia; and temporal lobe epilepsy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cell proliferation-inducing protein 59; DEE116; GLNS; glutamate decarboxylase; glutamate--ammonia ligase; glutamate-ammonia ligase (glutamine synthase); glutamine synthase; glutamine synthetase; GS; palmitoyltransferase GLUL; PIG43; PIG59; proliferation-inducing protein 43
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: GLULP1   GLULP2   GLULP3   GLULP4   GLULP5   GLULP6  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381182,378,098 - 182,391,790 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1182,378,098 - 182,392,206 (-)EnsemblGRCh38hg38GRCh38
GRCh371182,347,233 - 182,360,925 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361180,618,292 - 180,627,573 (-)NCBINCBI36Build 36hg18NCBI36
Build 341179,083,688 - 179,092,561NCBI
Celera1155,461,927 - 155,472,429 (-)NCBICelera
Cytogenetic Map1q25.3NCBI
HuRef1153,587,169 - 153,597,671 (-)NCBIHuRef
CHM1_11183,773,938 - 183,784,435 (-)NCBICHM1_1
T2T-CHM13v2.01181,737,671 - 181,751,363 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(+)-schisandrin B  (ISO)
(+)-taxifolin  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrabromodibenzodioxine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-amino-4,6-dinitrotoluene  (ISO)
2-chloroethanol  (ISO)
2-hydroxypropanoic acid  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
9-cis-retinoic acid  (EXP)
acetazolamide  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
agathisflavone  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-retinoic acid  (EXP)
allopurinol  (ISO)
alpha-pinene  (EXP)
ammonia  (EXP,ISO)
ammonium chloride  (ISO)
amphotericin B  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
astragaloside IV  (ISO)
atrazine  (ISO)
avobenzone  (EXP)
bacitracin  (ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
beta-naphthoflavone  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
buta-1,3-diene  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (ISO)
calcidiol  (ISO)
calcitriol  (EXP)
captan  (ISO)
carbamazepine  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
chloroprene  (ISO)
chloroquine  (EXP)
choline  (ISO)
chromium(6+)  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
clozapine  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
corosolic acid  (EXP)
corticosterone  (ISO)
cortisone  (ISO)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
cypermethrin  (ISO)
D-glucose  (ISO)
DDE  (EXP)
decabromodiphenyl ether  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
diethyl maleate  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
diuron  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
Erionite  (ISO)
ethanol  (ISO)
excitatory amino acid agonist  (ISO)
felbamate  (ISO)
fentin chloride  (ISO)
fenvalerate  (ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
formaldehyde  (EXP)
fructose  (ISO)
fumonisin B1  (ISO)
gamma-aminobutyric acid  (ISO)
gamma-hexachlorocyclohexane  (ISO)
genistein  (EXP)
glucose  (ISO)
glufosinate  (ISO)
guanosine  (ISO)
haloperidol  (ISO)
Hexachloro-1,3-butadiene  (ISO)
hydrogen chloride  (ISO)
hydrogen cyanide  (ISO)
hydroquinone  (EXP)
indometacin  (EXP)
iron dichloride  (EXP)
isoprenaline  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
kainic acid  (ISO)
ketamine  (ISO)
L-methionine  (ISO)
lanthanum trichloride  (ISO)
lead diacetate  (EXP,ISO)
lead(0)  (ISO)
leflunomide  (EXP)
lipopolysaccharide  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
manganese(II) sulfate  (ISO)
methidathion  (ISO)
methionine sulfoximine  (ISO)
methoxyacetic acid  (EXP)
methoxychlor  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (ISO)
miconazole  (ISO)
mitoxantrone  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nefazodone  (ISO)
nevirapine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
nimesulide  (ISO)
nitrofen  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
O-methyleugenol  (EXP)
ochratoxin A  (ISO)
oridonin  (ISO)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
PCB138  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenytoin  (ISO)
PhIP  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
potassium cyanide  (ISO)
potassium dichromate  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
promegestone  (EXP)
propiconazole  (ISO)
Propiverine  (ISO)
quercetin  (ISO)
rac-lactic acid  (EXP)
raloxifene  (ISO)
reactive oxygen species  (ISO)
resveratrol  (ISO)
Riluzole  (ISO)
rotenone  (ISO)
sarin  (EXP,ISO)
SB 203580  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (EXP)
Soman  (ISO)
sotorasib  (EXP)
streptozocin  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
topiramate  (ISO)
trametinib  (EXP)
tremolite asbestos  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP,ISO)
triphenyl phosphate  (EXP,ISO)
triptonide  (ISO)
troglitazone  (ISO)
uranium atom  (EXP)
urea  (ISO)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc protoporphyrin  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Severity of middle cerebral artery occlusion determines retinal deficits in rats. Allen RS, etal., Exp Neurol. 2014 Apr;254:206-15. doi: 10.1016/j.expneurol.2014.02.005. Epub 2014 Feb 8.
2. Progesterone treatment in two rat models of ocular ischemia. Allen RS, etal., Invest Ophthalmol Vis Sci. 2015 May;56(5):2880-91. doi: 10.1167/iovs.14-16070.
3. Aqueous humor oxidative stress proteomic levels in primary open angle glaucoma. Bagnis A, etal., Exp Eye Res. 2012 Oct;103:55-62. doi: 10.1016/j.exer.2012.07.011. Epub 2012 Aug 21.
4. Validation of a Congestive Hepatic Fibrosis Scoring System. Bosch DE, etal., Am J Surg Pathol. 2019 Jun;43(6):766-772. doi: 10.1097/PAS.0000000000001250.
5. Reduced GABA transaminase activity in the Huntington's disease putamen. Carter CJ Neurosci Lett. 1984 Aug 10;48(3):339-42.
6. Proteomic identification of oxidatively modified proteins in Alzheimer's disease brain. Part I: creatine kinase BB, glutamine synthase, and ubiquitin carboxy-terminal hydrolase L-1. Castegna A, etal., Free Radic Biol Med. 2002 Aug 15;33(4):562-71.
7. Glutamine synthetase from rat liver. Purification, properties, and preparation of specific antisera. Deuel TF, etal., J Biol Chem. 1978 Sep 10;253(17):6111-8.
8. Recurrent seizures and brain pathology after inhibition of glutamine synthetase in the hippocampus in rats. Eid T, etal., Brain. 2008 Aug;131(Pt 8):2061-70. Epub 2008 Jul 6.
9. Loss of glutamine synthetase in the human epileptogenic hippocampus: possible mechanism for raised extracellular glutamate in mesial temporal lobe epilepsy. Eid T, etal., Lancet. 2004 Jan 3;363(9402):28-37.
10. Prevention of Cyclophilin D-Mediated mPTP Opening Using Cyclosporine-A Alleviates the Elevation of Necroptosis, Autophagy and Apoptosis-Related Markers Following Global Cerebral Ischemia-Reperfusion. Fakharnia F, etal., J Mol Neurosci. 2017 Jan;61(1):52-60. doi: 10.1007/s12031-016-0843-3. Epub 2016 Sep 23.
11. Ischemic conditioning protects from axoglial alterations of the optic pathway induced by experimental diabetes in rats. Fernandez DC, etal., PLoS One. 2012;7(12):e51966. doi: 10.1371/journal.pone.0051966. Epub 2012 Dec 20.
12. Glutamine synthetase expression in activated hepatocyte progenitor cells and loss of hepatocellular expression in congestion and cirrhosis. Fleming KE and Wanless IR, Liver Int. 2013 Apr;33(4):525-34. doi: 10.1111/liv.12099. Epub 2013 Jan 31.
13. Quinolinic acid phosphoribosyltransferase in human and rat brain: activity in Huntington's disease and in quinolinate-lesioned rat striatum. Foster AC, etal., Brain Res. 1985 Jun 17;336(2):207-14.
14. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
15. Erythropoietin exerts a neuroprotective function against glutamate neurotoxicity in experimental diabetic retina. Gu L, etal., Invest Ophthalmol Vis Sci. 2014 Oct 21;55(12):8208-22. doi: 10.1167/iovs.14-14435.
16. Nodular Regenerative Hyperplasia: Expression Pattern of Glutamine Synthetase and a Potential Role for Hepatic Progenitor Cells. Guilbert MC, etal., Appl Immunohistochem Mol Morphol. 2020 Mar;28(3):243-248. doi: 10.1097/PAI.0000000000000793.
17. Detection of glutamine synthetase in the cerebrospinal fluid of Alzheimer diseased patients: a potential diagnostic biochemical marker. Gunnersen D and Haley B, Proc Natl Acad Sci U S A. 1992 Dec 15;89(24):11949-53.
18. Muscle amino acid pattern in obese rats. Herrero MC, etal., Int J Obes Relat Metab Disord. 1997 Aug;21(8):698-703.
19. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
20. Glutamate decarboxylase and GABA aminotransferase levels in different regions of rat brain on the onset of Leptazol induced convulsions. Nasreen Z, etal., Neurochem Res. 2012 Jan;37(1):202-4. doi: 10.1007/s11064-011-0603-2. Epub 2011 Sep 21.
21. Prospective Association of GLUL rs10911021 With Cardiovascular Morbidity and Mortality Among Individuals With Type 2 Diabetes: The Look AHEAD Study. NO_AUTHOR Diabetes. 2016 Jan;65(1):297-302. doi: 10.2337/db15-0890. Epub 2015 Sep 22.
22. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
23. Perflubron emulsion in prolonged hemorrhagic shock: influence on hepatocellular energy metabolism and oxygen-dependent gene expression. Paxian M, etal., Anesthesiology. 2003 Jun;98(6):1391-9. doi: 10.1097/00000542-200306000-00014.
24. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
25. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
26. L-NAME combats excitotoxicity and recuperates neurological deficits in MCAO/R rats. Pramila B, etal., Pharmacol Biochem Behav. 2015 Aug;135:246-53. doi: 10.1016/j.pbb.2015.06.006. Epub 2015 Jun 18.
27. Association between a genetic variant related to glutamic acid metabolism and coronary heart disease in individuals with type 2 diabetes. Qi L, etal., JAMA. 2013 Aug 28;310(8):821-8. doi: 10.1001/jama.2013.276305.
28. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
29. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
30. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
31. An analysis of the cortical and striatal involvement in dyskinesia induced in rats by intracerebral injection of GABA-transaminase inhibitors and picrotoxin. Robin MM, etal., Eur J Pharmacol. 1980 Apr 4;62(4):319-27.
32. Protective effect of grape seed and skin extract on cerebral ischemia in rat: implication of transition metals. Safwen K, etal., Int J Stroke. 2015 Apr;10(3):415-24. doi: 10.1111/ijs.12391. Epub 2014 Nov 3.
33. Purification and comparison of glutamine synthetase from rat and chick livers. Seyama S, etal., J Biochem. 1972 Oct;72(4):1017-27.
34. Effect of pigment epithelium derived factor on the expression of glutamine synthetase in early phase of experimental diabetic retinopathy. Shen X, etal., Ocul Immunol Inflamm. 2011 Aug;19(4):246-54. doi: 10.3109/09273948.2011.580073.
35. Glutamine synthetase in human carotid plaque macrophages associates with features of plaque vulnerability: An immunohistological study. Sorto P, etal., Atherosclerosis. 2022 Jul;352:18-26. doi: 10.1016/j.atherosclerosis.2022.05.008. Epub 2022 May 18.
36. Cortical expression of glial fibrillary acidic protein and glutamine synthetase is decreased in schizophrenia. Steffek AE, etal., Schizophr Res. 2008 Aug;103(1-3):71-82. Epub 2008 Jun 17.
37. Total oligomeric flavonoids of Cyperus rotundus ameliorates neurological deficits, excitotoxicity and behavioral alterations induced by cerebral ischemic-reperfusion injury in rats. Sunil AG, etal., Brain Res Bull. 2011 Apr 5;84(6):394-405. doi: 10.1016/j.brainresbull.2011.01.008. Epub 2011 Jan 25.
38. Rat liver glutamine synthetase. Preparation, properties, and mechanism of inhibition by carbamyl phosphate. Tate SS, etal., J Biol Chem. 1972 Sep 10;247(17):5312-21.
39. Object-based analysis of astroglial reaction and astrocyte subtype morphology after ischemic brain injury. Wagner DC, etal., Acta Neurobiol Exp (Wars). 2013;73(1):79-87.
40. Neuroprotective effect of transcorneal electrical stimulation on ischemic damage in the rat retina. Wang X, etal., Exp Eye Res. 2011 Nov;93(5):753-60. doi: 10.1016/j.exer.2011.09.022. Epub 2011 Oct 12.
41. Protective Effect of Raf-1 Kinase Inhibitory Protein on Diabetic Retinal Neurodegeneration through P38-MAPK Pathway. Wu C, etal., Curr Eye Res. 2022 Jan;47(1):135-142. doi: 10.1080/02713683.2021.1944644. Epub 2021 Jul 26.
42. Resveratrol Prevents Retinal Dysfunction by Regulating Glutamate Transporters, Glutamine Synthetase Expression and Activity in Diabetic Retina. Zeng K, etal., Neurochem Res. 2016 May;41(5):1050-64. doi: 10.1007/s11064-015-1793-9. Epub 2015 Dec 16.
43. Neuroprotective effects of ischemic postconditioning on global brain ischemia in rats through upregulation of hippocampal glutamine synthetase. Zhang W, etal., J Clin Neurosci. 2011 May;18(5):685-9. doi: 10.1016/j.jocn.2010.08.027. Epub 2011 Mar 2.
44. Chronic lead exposure enhances the sympathoexcitatory response associated with P2X4 receptor in rat stellate ganglia. Zhu G, etal., Environ Toxicol. 2018 Jun;33(6):631-639. doi: 10.1002/tox.22547. Epub 2018 Feb 19.
Additional References at PubMed
PMID:1681907   PMID:2856920   PMID:2888076   PMID:7909780   PMID:7923146   PMID:8889548   PMID:8921392   PMID:8975719   PMID:9107685   PMID:9260745   PMID:9263280   PMID:10520940  
PMID:10681395   PMID:10737800   PMID:12107411   PMID:12387715   PMID:12477932   PMID:14702039   PMID:14760703   PMID:15231748   PMID:15489334   PMID:15604093   PMID:15642443   PMID:16095760  
PMID:16189514   PMID:16196087   PMID:16267323   PMID:16344560   PMID:16537434   PMID:16609938   PMID:16710414   PMID:17197094   PMID:17627080   PMID:18005987   PMID:18029348   PMID:18062818  
PMID:18192886   PMID:18555765   PMID:18624398   PMID:18662667   PMID:19056867   PMID:19125103   PMID:19156168   PMID:19183851   PMID:19204801   PMID:19231003   PMID:19447967   PMID:19500843  
PMID:20107048   PMID:20233882   PMID:20471030   PMID:20525558   PMID:20536387   PMID:20936779   PMID:21139048   PMID:21175585   PMID:21597934   PMID:21630459   PMID:21682567   PMID:21757002  
PMID:21873635   PMID:21890473   PMID:21906983   PMID:21963094   PMID:21987572   PMID:21988832   PMID:21994455   PMID:22053931   PMID:22496890   PMID:22505724   PMID:22542401   PMID:22777743  
PMID:22863883   PMID:22930410   PMID:23000965   PMID:23376485   PMID:23410662   PMID:23807780   PMID:24816145   PMID:25416956   PMID:25502805   PMID:25677913   PMID:25822763   PMID:25910212  
PMID:25963833   PMID:26186194   PMID:26595383   PMID:26599579   PMID:26711351   PMID:26760575   PMID:26836257   PMID:26972000   PMID:26990986   PMID:27791265   PMID:27829138   PMID:28065597  
PMID:28320958   PMID:28514442   PMID:28662289   PMID:28675297   PMID:28813676   PMID:28883622   PMID:29029014   PMID:29117863   PMID:29299163   PMID:29304826   PMID:29435734   PMID:29441491  
PMID:29507755   PMID:29575012   PMID:29715546   PMID:30158707   PMID:30442662   PMID:30609375   PMID:30948266   PMID:30979931   PMID:31091453   PMID:31180492   PMID:31253590   PMID:31365859  
PMID:31391527   PMID:31515488   PMID:31536960   PMID:31986891   PMID:32552912   PMID:32694731   PMID:32814769   PMID:32888207   PMID:33314742   PMID:33378683   PMID:33560657   PMID:33653947  
PMID:33961781   PMID:34085602   PMID:34235580   PMID:34349018   PMID:34383978   PMID:34583995   PMID:34597346   PMID:34726182   PMID:35256949   PMID:35271311   PMID:35446349   PMID:35777956  
PMID:35831314   PMID:35914814   PMID:35944360   PMID:36114006   PMID:36180891   PMID:36215168   PMID:36256480   PMID:36289327   PMID:36587392   PMID:36619229   PMID:36702251   PMID:37059091  
PMID:37167062   PMID:37249651   PMID:37317656   PMID:37531433   PMID:37979911   PMID:38086219   PMID:38579670   PMID:39477285  


Genomics

Comparative Map Data
GLUL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381182,378,098 - 182,391,790 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1182,378,098 - 182,392,206 (-)EnsemblGRCh38hg38GRCh38
GRCh371182,347,233 - 182,360,925 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361180,618,292 - 180,627,573 (-)NCBINCBI36Build 36hg18NCBI36
Build 341179,083,688 - 179,092,561NCBI
Celera1155,461,927 - 155,472,429 (-)NCBICelera
Cytogenetic Map1q25.3NCBI
HuRef1153,587,169 - 153,597,671 (-)NCBIHuRef
CHM1_11183,773,938 - 183,784,435 (-)NCBICHM1_1
T2T-CHM13v2.01181,737,671 - 181,751,363 (-)NCBIT2T-CHM13v2.0
Glul
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391153,775,692 - 153,785,469 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1153,775,690 - 153,785,469 (+)EnsemblGRCm39 Ensembl
GRCm381153,899,929 - 153,909,723 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1153,899,944 - 153,909,723 (+)EnsemblGRCm38mm10GRCm38
MGSCv371155,747,075 - 155,756,844 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361155,662,163 - 155,671,932 (+)NCBIMGSCv36mm8
Celera1156,333,065 - 156,342,886 (+)NCBICelera
Cytogenetic Map1G3NCBI
cM Map165.43NCBI
Glul
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81368,519,500 - 68,585,554 (+)NCBIGRCr8
mRatBN7.21365,969,053 - 66,035,121 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1366,025,630 - 66,035,108 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1368,570,130 - 68,636,818 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01369,860,229 - 69,925,952 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01367,117,264 - 67,182,892 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01371,331,052 - 71,340,207 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1371,331,052 - 71,340,229 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01376,294,471 - 76,303,626 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.11232,761,556 - 32,788,230 (+)NCBI
Celera1365,922,875 - 65,932,149 (+)NCBICelera
Cytogenetic Map13q21NCBI
Glul
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540621,266,383 - 21,275,309 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540621,266,383 - 21,274,546 (-)NCBIChiLan1.0ChiLan1.0
GLUL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2167,356,866 - 67,365,787 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1167,039,838 - 67,049,341 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01157,882,258 - 157,891,562 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11161,534,106 - 161,543,411 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1161,534,106 - 161,543,411 (-)Ensemblpanpan1.1panPan2
GLUL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1715,730,898 - 15,740,241 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl715,730,898 - 15,740,241 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha715,314,979 - 15,324,324 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0715,461,328 - 15,470,693 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl715,461,336 - 15,470,695 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1715,369,339 - 15,378,686 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0715,477,997 - 15,487,355 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0715,609,290 - 15,618,655 (-)NCBIUU_Cfam_GSD_1.0
Glul
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934489,446,520 - 89,455,988 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364817,293,091 - 7,306,202 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364817,293,301 - 7,301,416 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GLUL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9123,748,380 - 123,762,545 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19123,751,551 - 123,762,575 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29135,909,152 - 135,909,595 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.29135,960,436 - 135,968,442 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GLUL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12546,988,853 - 46,998,112 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2546,989,205 - 47,000,555 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605548,207,460 - 48,216,850 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Glul
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247712,608,779 - 2,618,130 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GLUL
225 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001033044.4(GLUL):c.970C>A (p.Arg324Ser) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000022586] Chr1:182384557 [GRCh38]
Chr1:182353692 [GRCh37]
Chr1:1q25.3		 pathogenic
NM_001033044.4(GLUL):c.970C>T (p.Arg324Cys) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000017463] Chr1:182384557 [GRCh38]
Chr1:182353692 [GRCh37]
Chr1:1q25.3		 pathogenic
NM_001033044.4(GLUL):c.1021C>T (p.Arg341Cys) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000017464] Chr1:182384506 [GRCh38]
Chr1:182353641 [GRCh37]
Chr1:1q25.3		 pathogenic
GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1 copy number loss See cases [RCV000051221] Chr1:175035040..186042595 [GRCh38]
Chr1:175004176..186011727 [GRCh37]
Chr1:173270799..184278350 [NCBI36]
Chr1:1q25.1-31.1		 pathogenic
GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1 copy number loss See cases [RCV000053949] Chr1:182137726..186931125 [GRCh38]
Chr1:182106861..186900257 [GRCh37]
Chr1:180373484..185166880 [NCBI36]
Chr1:1q25.3-31.1		 pathogenic
GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 copy number loss See cases [RCV000053948] Chr1:179032905..199724897 [GRCh38]
Chr1:179002040..199694025 [GRCh37]
Chr1:177268663..197960648 [NCBI36]
Chr1:1q25.2-32.1		 pathogenic
GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1 copy number loss See cases [RCV000134144] Chr1:176595962..196301688 [GRCh38]
Chr1:176565098..196270818 [GRCh37]
Chr1:174831721..194537441 [NCBI36]
Chr1:1q25.2-31.3		 pathogenic
GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 copy number gain See cases [RCV000134876] Chr1:171039975..186875957 [GRCh38]
Chr1:171009116..186845089 [GRCh37]
Chr1:169275740..185111712 [NCBI36]
Chr1:1q24.3-31.1		 pathogenic
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 copy number loss See cases [RCV000142369] Chr1:170929720..191065409 [GRCh38]
Chr1:170898861..191034539 [GRCh37]
Chr1:169165485..189301162 [NCBI36]
Chr1:1q24.3-31.2		 pathogenic
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 copy number loss See cases [RCV000143688] Chr1:170036068..187555148 [GRCh38]
Chr1:170005209..187524280 [GRCh37]
Chr1:168271833..185790903 [NCBI36]
Chr1:1q24.2-31.1		 pathogenic
GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1 copy number loss See cases [RCV000240242] Chr1:181572003..191524283 [GRCh37]
Chr1:1q25.3-31.2		 pathogenic
NM_001033044.4(GLUL):c.*2074G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000264616] Chr1:182382331 [GRCh38]
Chr1:182351466 [GRCh37]
Chr1:1q25.3		 likely benign|uncertain significance
NM_001033044.4(GLUL):c.*2365G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000262413] Chr1:182382040 [GRCh38]
Chr1:182351175 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.-14+1008C>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000259266] Chr1:182390671 [GRCh38]
Chr1:182359806 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.355C>T (p.Arg119Trp) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000391584] Chr1:182386376 [GRCh38]
Chr1:182355511 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*2631G>C single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000392618] Chr1:182381774 [GRCh38]
Chr1:182350909 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.195T>C (p.Ser65=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000402945]|not provided [RCV001683174] Chr1:182387264 [GRCh38]
Chr1:182356399 [GRCh37]
Chr1:1q25.3		 benign
NM_001033044.4(GLUL):c.930C>T (p.Asn310=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000284509] Chr1:182384597 [GRCh38]
Chr1:182353732 [GRCh37]
Chr1:1q25.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001033044.4(GLUL):c.825G>A (p.Glu275=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000288452]|not provided [RCV004713546] Chr1:182384702 [GRCh38]
Chr1:182353837 [GRCh37]
Chr1:1q25.3		 benign|likely benign
NM_001033044.4(GLUL):c.*687A>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000365654] Chr1:182383718 [GRCh38]
Chr1:182352853 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.880C>T (p.Leu294=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000346598] Chr1:182384647 [GRCh38]
Chr1:182353782 [GRCh37]
Chr1:1q25.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001033044.4(GLUL):c.268C>T (p.Arg90Cys) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000315295] Chr1:182387191 [GRCh38]
Chr1:182356326 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.238G>A (p.Val80Met) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000349371] Chr1:182387221 [GRCh38]
Chr1:182356356 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.603+5G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000345806]|GLUL-related disorder [RCV003930210]|not provided [RCV001312112] Chr1:182385755 [GRCh38]
Chr1:182354890 [GRCh37]
Chr1:1q25.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001033044.4(GLUL):c.*1033G>C single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000278521] Chr1:182383372 [GRCh38]
Chr1:182352507 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.-14+905T>C single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000271932]|not provided [RCV004710739] Chr1:182390774 [GRCh38]
Chr1:182359909 [GRCh37]
Chr1:1q25.3		 likely benign|uncertain significance
NM_001033044.4(GLUL):c.*1357T>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000276482] Chr1:182383048 [GRCh38]
Chr1:182352183 [GRCh37]
Chr1:1q25.3		 likely benign|uncertain significance
NM_001033044.4(GLUL):c.*465A>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000277036]|not provided [RCV004710738] Chr1:182383940 [GRCh38]
Chr1:182353075 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.-14+955C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000267624]|not provided [RCV003333975] Chr1:182390724 [GRCh38]
Chr1:182359859 [GRCh37]
Chr1:1q25.3		 likely benign|uncertain significance
NM_001033044.4(GLUL):c.*1467GT[1] microsatellite Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000273048] Chr1:182382935..182382936 [GRCh38]
Chr1:182352070..182352071 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.-14+1136G>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000300204]|not provided [RCV004713547] Chr1:182390543 [GRCh38]
Chr1:182359678 [GRCh37]
Chr1:1q25.3		 benign|likely benign
NM_001033044.4(GLUL):c.*2631G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000314611]|not provided [RCV004714698] Chr1:182381774 [GRCh38]
Chr1:182350909 [GRCh37]
Chr1:1q25.3		 benign
NM_001033044.4(GLUL):c.*1286ATT[1] microsatellite Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000333793] Chr1:182383114..182383116 [GRCh38]
Chr1:182352249..182352251 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*2307C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000353642]|not provided [RCV004714699] Chr1:182382098 [GRCh38]
Chr1:182351233 [GRCh37]
Chr1:1q25.3		 benign
NM_001033044.4(GLUL):c.*1057A>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000375366] Chr1:182383348 [GRCh38]
Chr1:182352483 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_002065.6(GLUL):c.-564C>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000301073] Chr1:182391873 [GRCh38]
Chr1:182361008 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*272C>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000316471]|not provided [RCV004691162] Chr1:182384133 [GRCh38]
Chr1:182353268 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*1772C>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000335558] Chr1:182382633 [GRCh38]
Chr1:182351768 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*1563_*1566del deletion Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000301757] Chr1:182382839..182382842 [GRCh38]
Chr1:182351974..182351977 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*1058G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000318560] Chr1:182383347 [GRCh38]
Chr1:182352482 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.-14+1038C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000357465] Chr1:182390641 [GRCh38]
Chr1:182359776 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_002065.6(GLUL):c.-718G>C single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000357806]|not provided [RCV004714703] Chr1:182392027 [GRCh38]
Chr1:182361162 [GRCh37]
Chr1:1q25.3		 benign|likely benign
NM_001033044.4(GLUL):c.*1594_*1595del deletion Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000403143] Chr1:182382810..182382811 [GRCh38]
Chr1:182351945..182351946 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*922A>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000286812]|not provided [RCV004710737] Chr1:182383483 [GRCh38]
Chr1:182352618 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.*1958G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000289722] Chr1:182382447 [GRCh38]
Chr1:182351582 [GRCh37]
Chr1:1q25.3		 benign|uncertain significance
NM_001033044.4(GLUL):c.-14+853_-14+855del deletion Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000381528] Chr1:182390824..182390826 [GRCh38]
Chr1:182359959..182359961 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.*1762A>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000404013] Chr1:182382643 [GRCh38]
Chr1:182351778 [GRCh37]
Chr1:1q25.3		 likely benign|uncertain significance
NM_001033044.4(GLUL):c.-14+934C>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000320415] Chr1:182390745 [GRCh38]
Chr1:182359880 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*919A>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000339448]|not provided [RCV004714701] Chr1:182383486 [GRCh38]
Chr1:182352621 [GRCh37]
Chr1:1q25.3		 benign
NM_001033044.4(GLUL):c.-14+958G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000359942]|not provided [RCV003417935] Chr1:182390721 [GRCh38]
Chr1:182359856 [GRCh37]
Chr1:1q25.3		 likely benign|uncertain significance
NM_001033044.4(GLUL):c.*1596G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000359999] Chr1:182382809 [GRCh38]
Chr1:182351944 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*2516A>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000406296] Chr1:182381889 [GRCh38]
Chr1:182351024 [GRCh37]
Chr1:1q25.3		 benign|uncertain significance
NM_002065.6(GLUL):c.-706C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000305418] Chr1:182392015 [GRCh38]
Chr1:182361150 [GRCh37]
Chr1:1q25.3		 benign|likely benign
NM_001033044.4(GLUL):c.*1978G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000384018] Chr1:182382427 [GRCh38]
Chr1:182351562 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_002065.6(GLUL):c.-486T>C single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000407564]|not provided [RCV004713549] Chr1:182391795 [GRCh38]
Chr1:182360930 [GRCh37]
Chr1:1q25.3		 benign
NM_001033044.4(GLUL):c.*1909_*1910insTCATTT insertion Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000407682] Chr1:182382495..182382496 [GRCh38]
Chr1:182351630..182351631 [GRCh37]
Chr1:1q25.3		 benign
NM_001033044.4(GLUL):c.*2118T>C single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000323265]|not provided [RCV004714700] Chr1:182382287 [GRCh38]
Chr1:182351422 [GRCh37]
Chr1:1q25.3		 benign
NM_001033044.4(GLUL):c.*1276C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000385987] Chr1:182383129 [GRCh38]
Chr1:182352264 [GRCh37]
Chr1:1q25.3		 benign|uncertain significance
NM_001033044.4(GLUL):c.-110A>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000292783] Chr1:182391775 [GRCh38]
Chr1:182360910 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*492GA[2] microsatellite Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000307524] Chr1:182383908..182383909 [GRCh38]
Chr1:182353043..182353044 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*1364G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000364034] Chr1:182383041 [GRCh38]
Chr1:182352176 [GRCh37]
Chr1:1q25.3		 benign|likely benign
NM_001033044.4(GLUL):c.*1411C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000325714] Chr1:182382994 [GRCh38]
Chr1:182352129 [GRCh37]
Chr1:1q25.3		 benign|likely benign
NM_001033044.4(GLUL):c.*2644G>C single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000344760]|not provided [RCV004714697] Chr1:182381761 [GRCh38]
Chr1:182350896 [GRCh37]
Chr1:1q25.3		 benign
NM_001033044.4(GLUL):c.*1218G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000294019] Chr1:182383187 [GRCh38]
Chr1:182352322 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*342T>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000368162]|not provided [RCV004713545] Chr1:182384063 [GRCh38]
Chr1:182353198 [GRCh37]
Chr1:1q25.3		 benign
NM_001033044.4(GLUL):c.*2494G>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000311173] Chr1:182381911 [GRCh38]
Chr1:182351046 [GRCh37]
Chr1:1q25.3		 likely benign|uncertain significance
NM_001033044.4(GLUL):c.-14+892G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000329290]|not provided [RCV004713548] Chr1:182390787 [GRCh38]
Chr1:182359922 [GRCh37]
Chr1:1q25.3		 benign|likely benign
NM_001033044.4(GLUL):c.*2021G>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000329439] Chr1:182382384 [GRCh38]
Chr1:182351519 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.*966A>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000392472] Chr1:182383439 [GRCh38]
Chr1:182352574 [GRCh37]
Chr1:1q25.3		 benign|uncertain significance
NM_001033044.4(GLUL):c.-125A>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000349990] Chr1:182391790 [GRCh38]
Chr1:182360925 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.-14+997A>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000298020]|not provided [RCV003417934] Chr1:182390682 [GRCh38]
Chr1:182359817 [GRCh37]
Chr1:1q25.3		 likely benign|uncertain significance
NM_001033044.4(GLUL):c.*1913A>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000350486]|not provided [RCV004713544] Chr1:182382492 [GRCh38]
Chr1:182351627 [GRCh37]
Chr1:1q25.3		 benign
NM_001033044.4(GLUL):c.-43G>C single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000351304]|not provided [RCV004714702] Chr1:182391708 [GRCh38]
Chr1:182360843 [GRCh37]
Chr1:1q25.3		 benign
NM_001033044.4(GLUL):c.*305C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000261876] Chr1:182384100 [GRCh38]
Chr1:182353235 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*248dup duplication Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000373388] Chr1:182384156..182384157 [GRCh38]
Chr1:182353291..182353292 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*2074dup duplication Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000377798] Chr1:182382330..182382331 [GRCh38]
Chr1:182351465..182351466 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*101dup duplication Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000376711] Chr1:182384303..182384304 [GRCh38]
Chr1:182353438..182353439 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_002065.6(GLUL):c.-745C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000265662] Chr1:182392054 [GRCh38]
Chr1:182361189 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*684dup duplication Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000404792] Chr1:182383720..182383721 [GRCh38]
Chr1:182352855..182352856 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.*2130T>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000268159] Chr1:182382275 [GRCh38]
Chr1:182351410 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.811G>A (p.Glu271Lys) single nucleotide variant Inborn genetic diseases [RCV003267929] Chr1:182384716 [GRCh38]
Chr1:182353851 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*399C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000329800] Chr1:182384006 [GRCh38]
Chr1:182353141 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*1932T>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000344732] Chr1:182382473 [GRCh38]
Chr1:182351608 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*1692A>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000305145] Chr1:182382713 [GRCh38]
Chr1:182351848 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*1510G>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000365844] Chr1:182382895 [GRCh38]
Chr1:182352030 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*1910_*1913delinsTCATTTAAGT indel Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000295607] Chr1:182382492..182382495 [GRCh38]
Chr1:182351627..182351630 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_002065.6(GLUL):c.-675_-674TC[1] microsatellite Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000335881] Chr1:182391980..182391981 [GRCh38]
Chr1:182361115..182361116 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*2604C>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000350718] Chr1:182381801 [GRCh38]
Chr1:182350936 [GRCh37]
Chr1:1q25.3		 uncertain significance
NC_000001.11:g.182392208A>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000358994] Chr1:182392208 [GRCh38]
Chr1:182361343 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.*981T>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000335952] Chr1:182383424 [GRCh38]
Chr1:182352559 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*481G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000369174] Chr1:182383924 [GRCh38]
Chr1:182353059 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_002065.6(GLUL):c.-680C>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000407566] Chr1:182391989 [GRCh38]
Chr1:182361124 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*169G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000285878] Chr1:182384236 [GRCh38]
Chr1:182353371 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.-56C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000389571] Chr1:182391721 [GRCh38]
Chr1:182360856 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*1919A>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000389681] Chr1:182382486 [GRCh38]
Chr1:182351621 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*717T>C single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000309044] Chr1:182383688 [GRCh38]
Chr1:182352823 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*129G>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000324589]|not provided [RCV004691163] Chr1:182384276 [GRCh38]
Chr1:182353411 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.863A>G (p.Tyr288Cys) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000391593] Chr1:182384664 [GRCh38]
Chr1:182353799 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*2313C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000298811] Chr1:182382092 [GRCh38]
Chr1:182351227 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*850T>C single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000392503] Chr1:182383555 [GRCh38]
Chr1:182352690 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*1790C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000299277] Chr1:182382615 [GRCh38]
Chr1:182351750 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*2463C>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000357244] Chr1:182381942 [GRCh38]
Chr1:182351077 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.-14+10del deletion Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000289433] Chr1:182391669 [GRCh38]
Chr1:182360804 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.-14+916C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000377405] Chr1:182390763 [GRCh38]
Chr1:182359898 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.-14+1168C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001100187] Chr1:182390511 [GRCh38]
Chr1:182359646 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.678_679delinsGT (p.His226_Arg227delinsGlnCys) indel Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV005091583]|not specified [RCV000598722] Chr1:182385481..182385482 [GRCh38]
Chr1:182354616..182354617 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.1085A>G (p.Asn362Ser) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002532596]|Inborn genetic diseases [RCV003302921]|not provided [RCV000593192] Chr1:182384442 [GRCh38]
Chr1:182353577 [GRCh37]
Chr1:1q25.3		 uncertain significance
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 copy number loss See cases [RCV000447098] Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3		 pathogenic
NM_001033044.4(GLUL):c.515G>C (p.Gly172Ala) single nucleotide variant Inborn genetic diseases [RCV004022263]|not provided [RCV000422703] Chr1:182385848 [GRCh38]
Chr1:182354983 [GRCh37]
Chr1:1q25.3		 uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 copy number loss See cases [RCV000445748] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1 copy number loss See cases [RCV000448646] Chr1:179564752..183850820 [GRCh37]
Chr1:1q25.2-25.3		 pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)x1 copy number loss See cases [RCV000448809] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1q25.3(chr1:180830413-183981164)x3 copy number gain See cases [RCV000448160] Chr1:180830413..183981164 [GRCh37]
Chr1:1q25.3		 uncertain significance
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1 copy number loss See cases [RCV000448686] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3		 pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1 copy number loss See cases [RCV000512128] Chr1:179011314..199022759 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001033044.4(GLUL):c.857G>A (p.Arg286His) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002527153]|not provided [RCV000497751] Chr1:182384670 [GRCh38]
Chr1:182353805 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.1A>T (p.Met1Leu) single nucleotide variant Developmental and epileptic encephalopathy, 16 [RCV004525945]|Glutamine synthetase stabilization disorder [RCV003884568]|not provided [RCV000493544] Chr1:182388737 [GRCh38]
Chr1:182357872 [GRCh37]
Chr1:1q25.3		 pathogenic|likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3 copy number gain See cases [RCV000512520] Chr1:173138799..185129406 [GRCh37]
Chr1:1q25.1-25.3		 likely pathogenic
NM_001033044.4(GLUL):c.997AAG[1] (p.Lys334del) microsatellite Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000714873] Chr1:182384525..182384527 [GRCh38]
Chr1:182353660..182353662 [GRCh37]
Chr1:1q25.3		 uncertain significance
GRCh37/hg19 1q25.3(chr1:182175044-182472426)x1 copy number loss not provided [RCV000684677] Chr1:182175044..182472426 [GRCh37]
Chr1:1q25.3		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q25.1-31.1(chr1:173131908-187406532)x1 copy number loss not provided [RCV000736735] Chr1:173131908..187406532 [GRCh37]
Chr1:1q25.1-31.1		 pathogenic
GRCh37/hg19 1q25.3(chr1:182360063-182361464)x0 copy number loss not provided [RCV000749252] Chr1:182360063..182361464 [GRCh37]
Chr1:1q25.3		 benign
GRCh37/hg19 1q25.3(chr1:182360169-182361464)x0 copy number loss not provided [RCV000749253] Chr1:182360169..182361464 [GRCh37]
Chr1:1q25.3		 benign
NM_001033044.4(GLUL):c.-13-275_-13-269del deletion not provided [RCV001535080] Chr1:182389019..182389025 [GRCh38]
Chr1:182358154..182358160 [GRCh37]
Chr1:1q25.3		 benign
GRCh37/hg19 1q25.3(chr1:181863430-183148056)x1 copy number loss not provided [RCV000762696] Chr1:181863430..183148056 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.-13-2A>G single nucleotide variant Developmental and epileptic encephalopathy 116 [RCV004998943]|Developmental and epileptic encephalopathy, 16 [RCV004541990]|Glutamine synthetase stabilization disorder [RCV003883691]|not provided [RCV001546813] Chr1:182388752 [GRCh38]
Chr1:182357887 [GRCh37]
Chr1:1q25.3		 pathogenic|likely pathogenic|uncertain significance
NM_001033044.4(GLUL):c.*2636C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096466] Chr1:182381769 [GRCh38]
Chr1:182350904 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*297C>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096677] Chr1:182384108 [GRCh38]
Chr1:182353243 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.768C>T (p.Phe256=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000972372]|not provided [RCV004714166] Chr1:182385392 [GRCh38]
Chr1:182354527 [GRCh37]
Chr1:1q25.3		 benign
NM_001033044.4(GLUL):c.366C>T (p.Asp122=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV000898043] Chr1:182386365 [GRCh38]
Chr1:182355500 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.784C>A (p.Arg262=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001474688] Chr1:182385376 [GRCh38]
Chr1:182354511 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.*2571C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096467] Chr1:182381834 [GRCh38]
Chr1:182350969 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*1340C>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001098308] Chr1:182383065 [GRCh38]
Chr1:182352200 [GRCh37]
Chr1:1q25.3		 benign
NM_001033044.4(GLUL):c.714T>C (p.Phe238=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001098411] Chr1:182385446 [GRCh38]
Chr1:182354581 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.-119G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001098519] Chr1:182391784 [GRCh38]
Chr1:182360919 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_002065.6(GLUL):c.-529G>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001098520] Chr1:182391838 [GRCh38]
Chr1:182360973 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*2203A>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001098218] Chr1:182382202 [GRCh38]
Chr1:182351337 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*2555G>C single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096468] Chr1:182381850 [GRCh38]
Chr1:182350985 [GRCh37]
Chr1:1q25.3		 uncertain significance
NC_000001.10:g.172652343_183538289del10885947 deletion 1q24q25 microdeletion syndrome [RCV000785662] Chr1:172652343..183538289 [GRCh37]
Chr1:1q24.3-25.3		 pathogenic
NM_001033044.4(GLUL):c.*2172C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001099986] Chr1:182382233 [GRCh38]
Chr1:182351368 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*2128C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001099987] Chr1:182382277 [GRCh38]
Chr1:182351412 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*1994G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001099988] Chr1:182382411 [GRCh38]
Chr1:182351546 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*1646C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096574] Chr1:182382759 [GRCh38]
Chr1:182351894 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.-80G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001098518] Chr1:182391745 [GRCh38]
Chr1:182360880 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.1022G>A (p.Arg341His) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001230170] Chr1:182384505 [GRCh38]
Chr1:182353640 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*306G>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096676] Chr1:182384099 [GRCh38]
Chr1:182353234 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*1961G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001101980] Chr1:182382444 [GRCh38]
Chr1:182351579 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*2232C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001098217] Chr1:182382173 [GRCh38]
Chr1:182351308 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.1A>G (p.Met1Val) single nucleotide variant Developmental and epileptic encephalopathy 116 [RCV004782761]|Developmental and epileptic encephalopathy, 16 [RCV004526131]|Glutamine synthetase stabilization disorder [RCV003883693]|not provided [RCV001556925] Chr1:182388737 [GRCh38]
Chr1:182357872 [GRCh37]
Chr1:1q25.3		 pathogenic|likely pathogenic|uncertain significance
NM_001033044.4(GLUL):c.166+154A>G single nucleotide variant not provided [RCV001616300] Chr1:182388418 [GRCh38]
Chr1:182357553 [GRCh37]
Chr1:1q25.3		 benign
NM_001033044.4(GLUL):c.476-24T>C single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001702956]|not provided [RCV001669239] Chr1:182385911 [GRCh38]
Chr1:182355046 [GRCh37]
Chr1:1q25.3		 benign
NM_001033044.4(GLUL):c.675G>A (p.Leu225=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003517285] Chr1:182385485 [GRCh38]
Chr1:182354620 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.881T>G (p.Leu294Arg) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002068638] Chr1:182384646 [GRCh38]
Chr1:182353781 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.*1953C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001101981] Chr1:182382452 [GRCh38]
Chr1:182351587 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*722A>C single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001100094] Chr1:182383683 [GRCh38]
Chr1:182352818 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*1442A>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096575] Chr1:182382963 [GRCh38]
Chr1:182352098 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*289G>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096678] Chr1:182384116 [GRCh38]
Chr1:182353251 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.-33C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096765] Chr1:182391698 [GRCh38]
Chr1:182360833 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.-53T>C single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096766] Chr1:182391718 [GRCh38]
Chr1:182360853 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_002065.6(GLUL):c.-819G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001100282] Chr1:182392128 [GRCh38]
Chr1:182361263 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.474G>C (p.Gln158His) single nucleotide variant not provided [RCV004812981] Chr1:182386257 [GRCh38]
Chr1:182355392 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.889dup (p.Ala297fs) duplication not provided [RCV004814654] Chr1:182384637..182384638 [GRCh38]
Chr1:182353772..182353773 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.475+71A>G single nucleotide variant not provided [RCV001597827] Chr1:182386185 [GRCh38]
Chr1:182355320 [GRCh37]
Chr1:1q25.3		 benign
GRCh37/hg19 1q25.3(chr1:180586428-183178629)x3 copy number gain not provided [RCV001005158] Chr1:180586428..183178629 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*2304T>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001098216] Chr1:182382101 [GRCh38]
Chr1:182351236 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.1093G>A (p.Gly365Ser) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001098410] Chr1:182384434 [GRCh38]
Chr1:182353569 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.-14+966C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001102178] Chr1:182390713 [GRCh38]
Chr1:182359848 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*2691C>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001101902] Chr1:182381714 [GRCh38]
Chr1:182350849 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.603+45T>C single nucleotide variant not provided [RCV001614165] Chr1:182385715 [GRCh38]
Chr1:182354850 [GRCh37]
Chr1:1q25.3		 benign
NM_001033044.4(GLUL):c.*849C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001100093]|not provided [RCV004691363] Chr1:182383556 [GRCh38]
Chr1:182352691 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.328+187T>G single nucleotide variant not provided [RCV001681943] Chr1:182386944 [GRCh38]
Chr1:182356079 [GRCh37]
Chr1:1q25.3		 benign
NM_001033044.4(GLUL):c.*1676T>C single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096573] Chr1:182382729 [GRCh38]
Chr1:182351864 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*210T>C single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001096679] Chr1:182384195 [GRCh38]
Chr1:182353330 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.347C>T (p.Thr116Ile) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001100186] Chr1:182386384 [GRCh38]
Chr1:182355519 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*1289A>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001098309] Chr1:182383116 [GRCh38]
Chr1:182352251 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*1281G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001098310] Chr1:182383124 [GRCh38]
Chr1:182352259 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.655T>C (p.Trp219Arg) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001204860] Chr1:182385505 [GRCh38]
Chr1:182354640 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_002065.6(GLUL):c.-816C>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001100281] Chr1:182392125 [GRCh38]
Chr1:182361260 [GRCh37]
Chr1:1q25.3		 uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1 copy number loss not provided [RCV001005157] Chr1:177551193..199599056 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
NM_001033044.4(GLUL):c.*547C>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001102089] Chr1:182383858 [GRCh38]
Chr1:182352993 [GRCh37]
Chr1:1q25.3		 benign
NM_001033044.4(GLUL):c.-14+998C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001102177] Chr1:182390681 [GRCh38]
Chr1:182359816 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_002065.6(GLUL):c.-778G>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001100280] Chr1:182392087 [GRCh38]
Chr1:182361222 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.*527G>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001102090] Chr1:182383878 [GRCh38]
Chr1:182353013 [GRCh37]
Chr1:1q25.3		 uncertain significance
GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3 copy number gain not provided [RCV001258487] Chr1:173162501..182702252 [GRCh37]
Chr1:1q25.1-25.3		 pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_001033044.4(GLUL):c.1075T>G (p.Cys359Gly) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001353062] Chr1:182384452 [GRCh38]
Chr1:182353587 [GRCh37]
Chr1:1q25.3		 likely pathogenic
NM_001033044.4(GLUL):c.415del (p.Leu139fs) deletion Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001353063] Chr1:182386316 [GRCh38]
Chr1:182355451 [GRCh37]
Chr1:1q25.3		 pathogenic
NM_001033044.4(GLUL):c.328+19A>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001522421]|not provided [RCV001720296] Chr1:182387112 [GRCh38]
Chr1:182356247 [GRCh37]
Chr1:1q25.3		 benign
NM_001033044.4(GLUL):c.996G>A (p.Glu332=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001405592] Chr1:182384531 [GRCh38]
Chr1:182353666 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.-13-311G>C single nucleotide variant not provided [RCV001619428] Chr1:182389061 [GRCh38]
Chr1:182358196 [GRCh37]
Chr1:1q25.3		 benign
NM_001033044.4(GLUL):c.855C>G (p.Ile285Met) single nucleotide variant not provided [RCV004798593] Chr1:182384672 [GRCh38]
Chr1:182353807 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.3G>A (p.Met1Ile) single nucleotide variant Developmental and epileptic encephalopathy 116 [RCV004526144]|GLUL-related disorder [RCV004731172]|Glutamine related condition [RCV001788835]|Glutamine synthetase stabilization disorder [RCV003883701]|not provided [RCV001755207] Chr1:182388735 [GRCh38]
Chr1:182357870 [GRCh37]
Chr1:1q25.3		 pathogenic|likely pathogenic|uncertain significance
NM_001033044.4(GLUL):c.604-9C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002044169] Chr1:182385565 [GRCh38]
Chr1:182354700 [GRCh37]
Chr1:1q25.3		 likely benign|uncertain significance
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758) copy number loss not specified [RCV002053736] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3		 pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737) copy number loss not specified [RCV002053780] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1q25.3(chr1:180830413-183981164) copy number gain not specified [RCV002053802] Chr1:180830413..183981164 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.1084A>G (p.Asn362Asp) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001895340] Chr1:182384443 [GRCh38]
Chr1:182353578 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.1050G>A (p.Ser350=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001893286] Chr1:182384477 [GRCh38]
Chr1:182353612 [GRCh37]
Chr1:1q25.3		 likely benign|uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265) copy number loss not specified [RCV002053769] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
NM_001033044.4(GLUL):c.61C>T (p.Pro21Ser) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001909084] Chr1:182388677 [GRCh38]
Chr1:182357812 [GRCh37]
Chr1:1q25.3		 uncertain significance
GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1 copy number loss not provided [RCV001836604] Chr1:178522021..190322133 [GRCh37]
Chr1:1q25.2-31.1		 pathogenic
NM_001033044.4(GLUL):c.134G>A (p.Arg45Gln) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002019651] Chr1:182388604 [GRCh38]
Chr1:182357739 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.726C>T (p.Pro242=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001943018] Chr1:182385434 [GRCh38]
Chr1:182354569 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.956G>A (p.Arg319His) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001936387] Chr1:182384571 [GRCh38]
Chr1:182353706 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.1100A>G (p.Glu367Gly) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001995353] Chr1:182384427 [GRCh38]
Chr1:182353562 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.98T>C (p.Ile33Thr) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001883193]|GLUL-related disorder [RCV003401813]|not provided [RCV004691453] Chr1:182388640 [GRCh38]
Chr1:182357775 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.86T>C (p.Met29Thr) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001915853] Chr1:182388652 [GRCh38]
Chr1:182357787 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.603+2dup duplication Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002026562] Chr1:182385757..182385758 [GRCh38]
Chr1:182354892..182354893 [GRCh37]
Chr1:1q25.3		 uncertain significance
NC_000001.10:g.(?_179520308)_(183559464_?)dup duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002014062] Chr1:179520308..183559464 [GRCh37]
Chr1:1q25.2-25.3		 uncertain significance
NM_001033044.4(GLUL):c.845A>G (p.Gln282Arg) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002034202] Chr1:182384682 [GRCh38]
Chr1:182353817 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.29A>G (p.Asn10Ser) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV001899477] Chr1:182388709 [GRCh38]
Chr1:182357844 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.603+16A>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002186665] Chr1:182385744 [GRCh38]
Chr1:182354879 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.328+16G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002191735] Chr1:182387115 [GRCh38]
Chr1:182356250 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.329-18A>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002084665] Chr1:182386420 [GRCh38]
Chr1:182355555 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.57C>T (p.Ser19=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002107583] Chr1:182388681 [GRCh38]
Chr1:182357816 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.651T>C (p.His217=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002212478] Chr1:182385509 [GRCh38]
Chr1:182354644 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.604-8G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002095873] Chr1:182385564 [GRCh38]
Chr1:182354699 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.166+12A>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002144435] Chr1:182388560 [GRCh38]
Chr1:182357695 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.604-5T>C single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002175737] Chr1:182385561 [GRCh38]
Chr1:182354696 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.167-12T>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002198948] Chr1:182387304 [GRCh38]
Chr1:182356439 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.267C>G (p.Phe89Leu) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003110373] Chr1:182387192 [GRCh38]
Chr1:182356327 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.833G>A (p.Ser278Asn) single nucleotide variant not provided [RCV004787378] Chr1:182384694 [GRCh38]
Chr1:182353829 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.329-2A>G single nucleotide variant not provided [RCV002279896] Chr1:182386404 [GRCh38]
Chr1:182355539 [GRCh37]
Chr1:1q25.3		 not provided
NM_001033044.4(GLUL):c.604-2A>G single nucleotide variant not provided [RCV002279895] Chr1:182385558 [GRCh38]
Chr1:182354693 [GRCh37]
Chr1:1q25.3		 not provided
GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1 copy number loss not provided [RCV002473949] Chr1:179727182..192260142 [GRCh37]
Chr1:1q25.2-31.2		 pathogenic
NM_001033044.4(GLUL):c.622C>G (p.Pro208Ala) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002970979] Chr1:182385538 [GRCh38]
Chr1:182354673 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.986T>C (p.Val329Ala) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002839351] Chr1:182384541 [GRCh38]
Chr1:182353676 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.426A>G (p.Thr142=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002815635] Chr1:182386305 [GRCh38]
Chr1:182355440 [GRCh37]
Chr1:1q25.3		 likely benign
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 copy number gain not provided [RCV002475637] Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3		 pathogenic
NM_001033044.4(GLUL):c.590T>G (p.Val197Gly) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003032449] Chr1:182385773 [GRCh38]
Chr1:182354908 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.68_82del (p.Gly23_Gln27del) deletion Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002858061] Chr1:182388656..182388670 [GRCh38]
Chr1:182357791..182357805 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.1044C>G (p.Pro348=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002726484] Chr1:182384483 [GRCh38]
Chr1:182353618 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.603+16A>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003055416] Chr1:182385744 [GRCh38]
Chr1:182354879 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.753C>T (p.Gly251=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003081383] Chr1:182385407 [GRCh38]
Chr1:182354542 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.1065C>T (p.Leu355=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003020537] Chr1:182384462 [GRCh38]
Chr1:182353597 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.898C>T (p.Leu300=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002592406] Chr1:182384629 [GRCh38]
Chr1:182353764 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.467G>A (p.Gly156Glu) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003020860] Chr1:182386264 [GRCh38]
Chr1:182355399 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.926T>C (p.Ile309Thr) single nucleotide variant Inborn genetic diseases [RCV002868975] Chr1:182384601 [GRCh38]
Chr1:182353736 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.237C>T (p.Leu79=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002999586]|GLUL-related disorder [RCV003926645] Chr1:182387222 [GRCh38]
Chr1:182356357 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.680G>A (p.Arg227His) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002571150] Chr1:182385480 [GRCh38]
Chr1:182354615 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.943G>T (p.Gly315Cys) single nucleotide variant Inborn genetic diseases [RCV002848768] Chr1:182384584 [GRCh38]
Chr1:182353719 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.810C>T (p.Ile270=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002909663] Chr1:182384717 [GRCh38]
Chr1:182353852 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.572C>T (p.Ala191Val) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002620283] Chr1:182385791 [GRCh38]
Chr1:182354926 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.870C>G (p.Pro290=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002643705] Chr1:182384657 [GRCh38]
Chr1:182353792 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.542G>A (p.Arg181Gln) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002931890]|Inborn genetic diseases [RCV004973708] Chr1:182385821 [GRCh38]
Chr1:182354956 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.475+9C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003059613] Chr1:182386247 [GRCh38]
Chr1:182355382 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.1069C>T (p.Arg357Cys) single nucleotide variant Inborn genetic diseases [RCV002986483] Chr1:182384458 [GRCh38]
Chr1:182353593 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.1102C>T (p.Pro368Ser) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002575435] Chr1:182384425 [GRCh38]
Chr1:182353560 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.166+13T>C single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003007648] Chr1:182388559 [GRCh38]
Chr1:182357694 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.475+18A>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002928472] Chr1:182386238 [GRCh38]
Chr1:182355373 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.167-3C>T single nucleotide variant GLUL-related disorder [RCV003953998]|Inborn genetic diseases [RCV002855733] Chr1:182387295 [GRCh38]
Chr1:182356430 [GRCh37]
Chr1:1q25.3		 likely benign|uncertain significance
NM_001033044.4(GLUL):c.53T>C (p.Met18Thr) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003011524] Chr1:182388685 [GRCh38]
Chr1:182357820 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.308A>G (p.Lys103Arg) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003011330] Chr1:182387151 [GRCh38]
Chr1:182356286 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.316C>T (p.Arg106Ter) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003030774] Chr1:182387143 [GRCh38]
Chr1:182356278 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.679C>T (p.Arg227Cys) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV002715943] Chr1:182385481 [GRCh38]
Chr1:182354616 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.806A>G (p.Tyr269Cys) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003028111] Chr1:182384721 [GRCh38]
Chr1:182353856 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.173C>G (p.Pro58Arg) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003330149] Chr1:182387286 [GRCh38]
Chr1:182356421 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.-14+850G>A single nucleotide variant not provided [RCV003421259] Chr1:182390829 [GRCh38]
Chr1:182359964 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.-14+913G>C single nucleotide variant not provided [RCV003421258] Chr1:182390766 [GRCh38]
Chr1:182359901 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.317_318delinsAG (p.Arg106Gln) indel GLUL-related disorder [RCV003404415] Chr1:182387141..182387142 [GRCh38]
Chr1:182356276..182356277 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.177G>A (p.Glu59=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003825613] Chr1:182387282 [GRCh38]
Chr1:182356417 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.255T>C (p.Phe85=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003632922] Chr1:182387204 [GRCh38]
Chr1:182356339 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.329-20T>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003631838] Chr1:182386422 [GRCh38]
Chr1:182355557 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.476-10G>A single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003632652] Chr1:182385897 [GRCh38]
Chr1:182355032 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.1038C>T (p.Cys346=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003518789] Chr1:182384489 [GRCh38]
Chr1:182353624 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.328+14C>T single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003842053] Chr1:182387117 [GRCh38]
Chr1:182356252 [GRCh37]
Chr1:1q25.3		 likely benign
GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3 copy number gain not specified [RCV003986506] Chr1:173162501..182702252 [GRCh37]
Chr1:1q25.1-25.3		 pathogenic
GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1 copy number loss not specified [RCV003987250] Chr1:167994071..187711459 [GRCh37]
Chr1:1q24.2-31.1		 pathogenic
NM_001033044.4(GLUL):c.186C>T (p.Phe62=) single nucleotide variant GLUL-related disorder [RCV003941542] Chr1:182387273 [GRCh38]
Chr1:182356408 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.166+15T>G single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV003822032] Chr1:182388557 [GRCh38]
Chr1:182357692 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.-13-1G>A single nucleotide variant Developmental and epileptic encephalopathy, 16 [RCV004540681]|Glutamine synthetase stabilization disorder [RCV003885348] Chr1:182388751 [GRCh38]
Chr1:182357886 [GRCh37]
Chr1:1q25.3		 pathogenic|likely pathogenic
NM_001033044.4(GLUL):c.1A>C (p.Met1Leu) single nucleotide variant Developmental and epileptic encephalopathy, 16 [RCV004526259]|Glutamine synthetase stabilization disorder [RCV003885347] Chr1:182388737 [GRCh38]
Chr1:182357872 [GRCh37]
Chr1:1q25.3		 pathogenic|likely pathogenic
NM_001033044.4(GLUL):c.456C>T (p.Asn152=) single nucleotide variant GLUL-related disorder [RCV003899619] Chr1:182386275 [GRCh38]
Chr1:182355410 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.1074G>T (p.Thr358=) single nucleotide variant GLUL-related disorder [RCV003901802] Chr1:182384453 [GRCh38]
Chr1:182353588 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.838C>A (p.Arg280=) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004560293] Chr1:182384689 [GRCh38]
Chr1:182353824 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.317G>A (p.Arg106Gln) single nucleotide variant Inborn genetic diseases [RCV004393296] Chr1:182387142 [GRCh38]
Chr1:182356277 [GRCh37]
Chr1:1q25.3		 uncertain significance
NC_000001.10:g.(?_179520308)_(183559464_?)del deletion not provided [RCV004579068] Chr1:179520308..183559464 [GRCh37]
Chr1:1q25.2-25.3		 pathogenic
NM_001033044.4(GLUL):c.496G>A (p.Gly166Arg) single nucleotide variant not provided [RCV004794021] Chr1:182385867 [GRCh38]
Chr1:182355002 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.167-6C>G single nucleotide variant GLUL-related disorder [RCV004755263] Chr1:182387298 [GRCh38]
Chr1:182356433 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.530A>G (p.Glu177Gly) single nucleotide variant not provided [RCV004762431]   uncertain significance
NM_001033044.4(GLUL):c.838_839delinsAAACTAA (p.Arg280fs) indel not provided [RCV004769082] Chr1:182384688..182384689 [GRCh38]
Chr1:182353823..182353824 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.856C>T (p.Arg286Cys) single nucleotide variant Inborn genetic diseases [RCV004982636] Chr1:182384671 [GRCh38]
Chr1:182353806 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.292T>C (p.Leu98=) single nucleotide variant not specified [RCV005088440] Chr1:182387167 [GRCh38]
Chr1:182356302 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.696T>C (p.Phe232=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV005206385] Chr1:182385464 [GRCh38]
Chr1:182354599 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.1023C>T (p.Arg341=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV005077323] Chr1:182384504 [GRCh38]
Chr1:182353639 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.768C>G (p.Phe256Leu) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV005182637] Chr1:182385392 [GRCh38]
Chr1:182354527 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.-14+1156C>T single nucleotide variant not provided [RCV005243968] Chr1:182390523 [GRCh38]
Chr1:182359658 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.897T>C (p.Arg299=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV005168117] Chr1:182384630 [GRCh38]
Chr1:182353765 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.1095C>T (p.Gly365=) single nucleotide variant not specified [RCV005239821] Chr1:182384432 [GRCh38]
Chr1:182353567 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.830dup (p.Ser278fs) duplication not provided [RCV005241662] Chr1:182384696..182384697 [GRCh38]
Chr1:182353831..182353832 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.328+7TA[3] microsatellite Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV005176397] Chr1:182387120..182387121 [GRCh38]
Chr1:182356255..182356256 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.650A>G (p.His217Arg) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV005136752] Chr1:182385510 [GRCh38]
Chr1:182354645 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.1092C>T (p.Thr364=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV005208099] Chr1:182384435 [GRCh38]
Chr1:182353570 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.603+8T>C single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV005068717] Chr1:182385752 [GRCh38]
Chr1:182354887 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.564C>T (p.Val188=) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV005176475] Chr1:182385799 [GRCh38]
Chr1:182354934 [GRCh37]
Chr1:1q25.3		 likely benign
NM_001033044.4(GLUL):c.961G>A (p.Ala321Thr) single nucleotide variant Congenital brain dysgenesis due to glutamine synthetase deficiency [RCV005182315] Chr1:182384566 [GRCh38]
Chr1:182353701 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_001033044.4(GLUL):c.677A>G (p.His226Arg) single nucleotide variant Inborn genetic diseases [RCV004393297] Chr1:182385483 [GRCh38]
Chr1:182354618 [GRCh37]
Chr1:1q25.3		 uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR29Ahsa-miR-29a-3pMirtarbaseexternal_infoImmunoblot//Luciferase reporter assay//Microarray/Functional MTI19951903

Predicted Target Of
Summary Value
Count of predictions:5554
Count of miRNA genes:1070
Interacting mature miRNAs:1340
Transcripts:ENST00000311223, ENST00000331872, ENST00000339526, ENST00000417584, ENST00000461447, ENST00000462444, ENST00000463851, ENST00000475808, ENST00000480604, ENST00000484996, ENST00000489818, ENST00000491322
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597436600GWAS1532674_Hpeptide measurement QTL GWAS1532674 (human)0.000009peptide metabolism trait (VT:0010634)1182387112182387113Human
597508440GWAS1604514_HJT interval QTL GWAS1604514 (human)2e-10heart electrical impulse conduction trait (VT:2000017)heart electrical conduction measurement (CMO:0000230)1182386185182386186Human

Markers in Region
D1S290E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371182,353,190 - 182,353,267UniSTSGRCh37
GRCh371182,353,144 - 182,353,344UniSTSGRCh37
GRCh371182,353,174 - 182,353,284UniSTSGRCh37
Build 361180,619,813 - 180,619,890RGDNCBI36
Celera1155,464,284 - 155,464,361RGD
Celera1155,464,268 - 155,464,378UniSTS
Celera1155,464,238 - 155,464,438UniSTS
Cytogenetic Map1q31UniSTS
HuRef1153,589,480 - 153,589,680UniSTS
HuRef1153,589,510 - 153,589,620UniSTS
HuRef1153,589,526 - 153,589,603UniSTS
Stanford-G3 RH Map17181.0UniSTS
Whitehead-YAC Contig Map1 UniSTS
GeneMap99-G3 RH Map17137.0UniSTS
SGC30288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371182,352,896 - 182,353,021UniSTSGRCh37
Build 361180,619,519 - 180,619,644RGDNCBI36
Celera1155,463,990 - 155,464,115RGD
Cytogenetic Map1q31UniSTS
HuRef1153,589,232 - 153,589,357UniSTS
GeneMap99-GB4 RH Map1629.7UniSTS
Whitehead-RH Map1790.4UniSTS
NCBI RH Map11540.9UniSTS
Cda0jg12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371182,352,052 - 182,352,179UniSTSGRCh37
Build 361180,618,675 - 180,618,802RGDNCBI36
Celera1155,463,146 - 155,463,273RGD
Cytogenetic Map1q31UniSTS
HuRef1153,588,388 - 153,588,515UniSTS
RH70547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371182,353,551 - 182,353,736UniSTSGRCh37
GRCh37934,918,097 - 34,918,282UniSTSGRCh37
Build 361180,620,174 - 180,620,359RGDNCBI36
Celera1155,464,645 - 155,464,830RGD
Celera934,849,652 - 34,849,837UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map1q31UniSTS
HuRef1153,589,887 - 153,590,072UniSTS
HuRef934,873,138 - 34,873,323UniSTS
D1S2009E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371182,352,490 - 182,352,613UniSTSGRCh37
Build 361180,619,113 - 180,619,236RGDNCBI36
Celera1155,463,584 - 155,463,707RGD
Cytogenetic Map1q31UniSTS
HuRef1153,588,826 - 153,588,949UniSTS
D1S2075E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371182,353,275 - 182,353,494UniSTSGRCh37
Build 361180,619,898 - 180,620,117RGDNCBI36
Celera1155,464,369 - 155,464,588RGD
Cytogenetic Map1q31UniSTS
HuRef1153,589,611 - 153,589,830UniSTS
SHGC-75989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371182,352,055 - 182,352,188UniSTSGRCh37
Build 361180,618,678 - 180,618,811RGDNCBI36
Celera1155,463,149 - 155,463,282RGD
Cytogenetic Map1q31UniSTS
HuRef1153,588,391 - 153,588,524UniSTS
TNG Radiation Hybrid Map186233.0UniSTS
GeneMap99-GB4 RH Map1629.89UniSTS
NCBI RH Map11563.6UniSTS
D1S2414  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371182,353,217 - 182,353,316UniSTSGRCh37
Build 361180,619,840 - 180,619,939RGDNCBI36
Celera1155,464,311 - 155,464,410RGD
Cytogenetic Map1q31UniSTS
HuRef1153,589,553 - 153,589,652UniSTS
GeneMap99-GB4 RH Map1633.62UniSTS
Whitehead-RH Map1792.5UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11567.5UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
D1S290E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q31UniSTS
Whitehead-YAC Contig Map1 UniSTS
D1S290E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q31UniSTS
Stanford-G3 RH Map17181.0UniSTS
GeneMap99-G3 RH Map17137.0UniSTS


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 2433 2788 2248 4966 1725 2349 5 624 1933 465 2265 7281 6453 52 3734 1 851 1742 1614 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001033044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001033056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI147221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI286093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW665656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW954632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY486122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY486123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY513283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY947343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF923451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG771732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI668874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM662182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM690132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ637044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD300750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD688156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA151535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA322310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA456371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB317032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA462412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC990129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S70290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X59834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000311223   ⟹   ENSP00000307900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1182,381,705 - 182,392,206 (-)Ensembl
Ensembl Acc Id: ENST00000331872   ⟹   ENSP00000356537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1182,378,098 - 182,391,790 (-)Ensembl
Ensembl Acc Id: ENST00000339526   ⟹   ENSP00000344958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1182,382,894 - 182,391,097 (-)Ensembl
Ensembl Acc Id: ENST00000417584   ⟹   ENSP00000398320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1182,381,705 - 182,391,404 (-)Ensembl
Ensembl Acc Id: ENST00000461447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1182,384,415 - 182,385,939 (-)Ensembl
Ensembl Acc Id: ENST00000462444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1182,386,775 - 182,391,774 (-)Ensembl
Ensembl Acc Id: ENST00000463851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1182,384,196 - 182,391,759 (-)Ensembl
Ensembl Acc Id: ENST00000475808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1182,386,195 - 182,389,069 (-)Ensembl
Ensembl Acc Id: ENST00000480604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1182,386,273 - 182,391,759 (-)Ensembl
Ensembl Acc Id: ENST00000484996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1182,385,403 - 182,391,773 (-)Ensembl
Ensembl Acc Id: ENST00000489818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1182,385,699 - 182,391,790 (-)Ensembl
Ensembl Acc Id: ENST00000491322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1182,382,894 - 182,390,304 (-)Ensembl
Ensembl Acc Id: ENST00000642379   ⟹   ENSP00000494022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1182,381,704 - 182,391,346 (-)Ensembl
RefSeq Acc Id: NM_001033044   ⟹   NP_001028216
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381182,378,098 - 182,391,790 (-)NCBI
GRCh371182,350,839 - 182,361,341 (-)ENTREZGENE
Build 361180,618,292 - 180,627,573 (-)NCBI Archive
HuRef1153,587,169 - 153,597,671 (-)ENTREZGENE
CHM1_11183,770,327 - 183,784,435 (-)NCBI
T2T-CHM13v2.01181,737,671 - 181,751,363 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001033056   ⟹   NP_001028228
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381182,378,098 - 182,391,341 (-)NCBI
GRCh371182,350,839 - 182,361,341 (-)ENTREZGENE
Build 361180,618,292 - 180,627,131 (-)NCBI Archive
HuRef1153,587,169 - 153,597,671 (-)ENTREZGENE
CHM1_11183,770,327 - 183,783,633 (-)NCBI
T2T-CHM13v2.01181,737,671 - 181,750,914 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002065   ⟹   NP_002056
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381182,378,098 - 182,391,790 (-)NCBI
GRCh371182,350,839 - 182,361,341 (-)ENTREZGENE
Build 361180,618,292 - 180,627,573 (-)NCBI Archive
HuRef1153,587,169 - 153,597,671 (-)ENTREZGENE
CHM1_11183,770,327 - 183,784,435 (-)NCBI
T2T-CHM13v2.01181,737,671 - 181,751,363 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001028216 (Get FASTA)   NCBI Sequence Viewer  
  NP_001028228 (Get FASTA)   NCBI Sequence Viewer  
  NP_002056 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB30693 (Get FASTA)   NCBI Sequence Viewer  
  AAH10037 (Get FASTA)   NCBI Sequence Viewer  
  AAH11700 (Get FASTA)   NCBI Sequence Viewer  
  AAH11852 (Get FASTA)   NCBI Sequence Viewer  
  AAH18992 (Get FASTA)   NCBI Sequence Viewer  
  AAH31964 (Get FASTA)   NCBI Sequence Viewer  
  AAH51726 (Get FASTA)   NCBI Sequence Viewer  
  AAI27884 (Get FASTA)   NCBI Sequence Viewer  
  AAS57904 (Get FASTA)   NCBI Sequence Viewer  
  AAS57905 (Get FASTA)   NCBI Sequence Viewer  
  AAT08036 (Get FASTA)   NCBI Sequence Viewer  
  AAY57874 (Get FASTA)   NCBI Sequence Viewer  
  BAG52617 (Get FASTA)   NCBI Sequence Viewer  
  BAG53728 (Get FASTA)   NCBI Sequence Viewer  
  BAG63088 (Get FASTA)   NCBI Sequence Viewer  
  CAA42495 (Get FASTA)   NCBI Sequence Viewer  
  CAA68457 (Get FASTA)   NCBI Sequence Viewer  
  CAB82304 (Get FASTA)   NCBI Sequence Viewer  
  CAD97626 (Get FASTA)   NCBI Sequence Viewer  
  CCD35254 (Get FASTA)   NCBI Sequence Viewer  
  CEO43498 (Get FASTA)   NCBI Sequence Viewer  
  EAW91116 (Get FASTA)   NCBI Sequence Viewer  
  EAW91117 (Get FASTA)   NCBI Sequence Viewer  
  EAW91118 (Get FASTA)   NCBI Sequence Viewer  
  EAW91119 (Get FASTA)   NCBI Sequence Viewer  
  EAW91120 (Get FASTA)   NCBI Sequence Viewer  
  EAW91121 (Get FASTA)   NCBI Sequence Viewer  
  EAW91122 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000307900
  ENSP00000307900.5
  ENSP00000344958.5
  ENSP00000356537
  ENSP00000356537.6
  ENSP00000398320
  ENSP00000398320.2
GenBank Protein P15104 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001028216   ⟸   NM_001033044
- UniProtKB: Q7Z3W4 (UniProtKB/Swiss-Prot),   Q5T9Z1 (UniProtKB/Swiss-Prot),   Q499Y9 (UniProtKB/Swiss-Prot),   Q8IZ17 (UniProtKB/Swiss-Prot),   P15104 (UniProtKB/Swiss-Prot),   A8YXX4 (UniProtKB/TrEMBL),   A0A024R956 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002056   ⟸   NM_002065
- UniProtKB: Q7Z3W4 (UniProtKB/Swiss-Prot),   Q5T9Z1 (UniProtKB/Swiss-Prot),   Q499Y9 (UniProtKB/Swiss-Prot),   Q8IZ17 (UniProtKB/Swiss-Prot),   P15104 (UniProtKB/Swiss-Prot),   A8YXX4 (UniProtKB/TrEMBL),   A0A024R956 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001028228   ⟸   NM_001033056
- UniProtKB: Q7Z3W4 (UniProtKB/Swiss-Prot),   Q5T9Z1 (UniProtKB/Swiss-Prot),   Q499Y9 (UniProtKB/Swiss-Prot),   Q8IZ17 (UniProtKB/Swiss-Prot),   P15104 (UniProtKB/Swiss-Prot),   A8YXX4 (UniProtKB/TrEMBL),   A0A024R956 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000356537   ⟸   ENST00000331872
Ensembl Acc Id: ENSP00000398320   ⟸   ENST00000417584
Ensembl Acc Id: ENSP00000307900   ⟸   ENST00000311223
Ensembl Acc Id: ENSP00000344958   ⟸   ENST00000339526
Ensembl Acc Id: ENSP00000494022   ⟸   ENST00000642379
Protein Domains
GS beta-grasp   GS catalytic

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P15104-F1-model_v2 AlphaFold P15104 1-373 view protein structure

Promoters
RGD ID:6785649
Promoter ID:HG_KWN:6450
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000091052
Position:
Human AssemblyChrPosition (strand)Source
Build 361180,621,606 - 180,622,357 (-)MPROMDB
RGD ID:6785650
Promoter ID:HG_KWN:6451
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:ENST00000331872,   NM_001033056,   NM_002065,   OTTHUMT00000091045,   OTTHUMT00000091046,   OTTHUMT00000091047,   OTTHUMT00000091048,   OTTHUMT00000091049,   OTTHUMT00000091050,   OTTHUMT00000091051,   UC001GPB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361180,624,906 - 180,627,492 (-)MPROMDB
RGD ID:6851858
Promoter ID:EP73735
Type:single initiation site
Name:HS_GLUL
Description:Glutamate-ammonia ligase (glutamine synthase).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361180,627,548 - 180,627,608EPD
RGD ID:6858316
Promoter ID:EPDNEW_H2318
Type:initiation region
Name:GLUL_2
Description:glutamate-ammonia ligase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2319  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381182,391,341 - 182,391,401EPDNEW
RGD ID:6858308
Promoter ID:EPDNEW_H2319
Type:initiation region
Name:GLUL_1
Description:glutamate-ammonia ligase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2318  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381182,391,790 - 182,391,850EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4341 AgrOrtholog
COSMIC GLUL COSMIC
Ensembl Genes ENSG00000135821 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000311223 ENTREZGENE
  ENST00000311223.9 UniProtKB/Swiss-Prot
  ENST00000331872 ENTREZGENE
  ENST00000331872.11 UniProtKB/Swiss-Prot
  ENST00000339526.9 UniProtKB/Swiss-Prot
  ENST00000417584 ENTREZGENE
  ENST00000417584.6 UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.20.70 UniProtKB/Swiss-Prot
  Glutamine synthetase/guanido kinase, catalytic domain UniProtKB/Swiss-Prot
GTEx ENSG00000135821 GTEx
HGNC ID HGNC:4341 ENTREZGENE
Human Proteome Map GLUL Human Proteome Map
InterPro Gln_synt_b-grasp UniProtKB/Swiss-Prot
  Gln_synt_N UniProtKB/Swiss-Prot
  Gln_synth/guanido_kin_cat_dom UniProtKB/Swiss-Prot
  Gln_synth_cat_dom UniProtKB/Swiss-Prot
  Gln_synth_gly_rich_site UniProtKB/Swiss-Prot
  Gln_synth_N_conserv_site UniProtKB/Swiss-Prot
  Glutamine_Synthetase UniProtKB/Swiss-Prot
KEGG Report hsa:2752 UniProtKB/Swiss-Prot
NCBI Gene 2752 ENTREZGENE
OMIM 138290 OMIM
PANTHER GLUTAMINE SYNTHETASE UniProtKB/Swiss-Prot
  GLUTAMINE SYNTHETASE UniProtKB/Swiss-Prot
Pfam Gln-synt_C UniProtKB/Swiss-Prot
  Gln-synt_N UniProtKB/Swiss-Prot
PharmGKB PA28743 PharmGKB
PROSITE GLNA_1 UniProtKB/Swiss-Prot
  GLNA_ATP UniProtKB/Swiss-Prot
  GS_BETA_GRASP UniProtKB/Swiss-Prot
  GS_CATALYTIC UniProtKB/Swiss-Prot
SMART Gln-synt_C UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54368 UniProtKB/Swiss-Prot
  SSF55931 UniProtKB/Swiss-Prot
UniProt A0A024R956 ENTREZGENE
  A0A2R8YDT1_HUMAN UniProtKB/TrEMBL
  A1L199_HUMAN UniProtKB/TrEMBL
  A8YXX4 ENTREZGENE, UniProtKB/TrEMBL
  GLNA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q499Y9 ENTREZGENE
  Q5T9Z1 ENTREZGENE
  Q7Z3W4 ENTREZGENE
  Q8IZ17 ENTREZGENE
UniProt Secondary Q499Y9 UniProtKB/Swiss-Prot
  Q5T9Z1 UniProtKB/Swiss-Prot
  Q7Z3W4 UniProtKB/Swiss-Prot
  Q8IZ17 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 GLUL  glutamate-ammonia ligase  GLUL  glutamate-ammonia ligase (glutamine synthetase)  Symbol and/or name change 5135510 APPROVED