ARG1 (arginase 1) - Rat Genome Database

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Gene: ARG1 (arginase 1) Homo sapiens
Analyze
Symbol: ARG1
Name: arginase 1
RGD ID: 1353986
HGNC Page HGNC
Description: Predicted to enable arginase activity and manganese ion binding activity. Involved in negative regulation of T cell proliferation; negative regulation of interferon-gamma-mediated signaling pathway; and positive regulation of neutrophil mediated killing of fungus. Located in extracellular space. Implicated in asthma; hepatocellular carcinoma; and hyperargininemia. Biomarker of asthma and colitis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: arginase, liver; arginase-1; liver-type arginase; type I arginase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6131,470,832 - 131,584,332 (+)EnsemblGRCh38hg38GRCh38
GRCh386131,573,226 - 131,584,329 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376131,894,366 - 131,905,469 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366131,936,058 - 131,947,161 (+)NCBINCBI36hg18NCBI36
Build 346131,936,057 - 131,947,161NCBI
Celera6132,641,003 - 132,652,108 (+)NCBI
Cytogenetic Map6q23.2NCBI
HuRef6129,475,527 - 129,486,657 (+)NCBIHuRef
CHM1_16132,158,130 - 132,169,259 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(E)-thiamethoxam  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1-bromopropane  (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)
2,3,7,8-tetrabromodibenzodioxine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,5-hexanedione  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-(1,4-diazepane-1-sulfonyl)isoquinoline  (ISO)
5-aminoimidazole-4-carboxamide  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
agathisflavone  (ISO)
AICA ribonucleotide  (ISO)
all-trans-retinoic acid  (ISO)
amiodarone  (ISO)
amitriptyline  (ISO)
amlexanox  (ISO)
ammonium chloride  (ISO)
ampicillin  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (ISO)
azithromycin  (ISO)
azoxystrobin  (EXP)
Bardoxolone methyl  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-amyrin  (ISO)
bexarotene  (ISO)
bicalutamide  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
boric acid  (EXP)
bromobenzene  (ISO)
calciol  (EXP)
calcitriol  (EXP)
carbendazim  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (EXP)
choline  (ISO)
cis-caffeic acid  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cortisol  (ISO)
coumarin  (ISO)
crocidolite asbestos  (ISO)
Cyclopamine  (EXP)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
cypermethrin  (ISO)
cyproconazole  (ISO)
cyprodinil  (EXP)
DDE  (ISO)
dextran sulfate  (ISO)
Diallyl sulfide  (ISO)
diarsenic trioxide  (ISO)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
diethylstilbestrol  (ISO)
difenoconazole  (EXP)
dimethomorph  (EXP)
dioxygen  (ISO)
disodium selenite  (ISO)
diuron  (ISO)
donepezil hydrochloride  (ISO)
dopamine  (ISO)
dorsomorphin  (ISO)
doxorubicin  (ISO)
elemental selenium  (ISO)
endosulfan  (EXP,ISO)
enilconazole  (EXP)
epoxiconazole  (EXP)
ethoprophos  (EXP)
excitatory amino acid agonist  (ISO)
fasudil hydrochloride  (ISO)
fenhexamid  (EXP)
fenpyroximate  (EXP)
fipronil  (EXP)
flavonoids  (ISO)
fludioxonil  (EXP)
flurbiprofen  (ISO)
flusilazole  (EXP,ISO)
flutamide  (ISO)
fluxapyroxad  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (ISO)
furan  (ISO)
genistein  (ISO)
glyburide  (ISO)
glycidol  (ISO)
graphene oxide  (ISO)
graphite  (ISO)
hexadecanoic acid  (EXP,ISO)
HU-308  (ISO)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
imipramine  (ISO)
iodide salt  (ISO)
isoliquiritigenin  (ISO)
L-ethionine  (ISO)
L-methionine  (EXP,ISO)
Lasiocarpine  (EXP)
leflunomide  (ISO)
limonene  (ISO)
linuron  (ISO)
lipopolysaccharide  (ISO)
maneb  (EXP,ISO)
manganese atom  (EXP,ISO)
manganese(0)  (EXP,ISO)
manganese(II) chloride  (ISO)
MeIQx  (EXP)
mercury atom  (ISO)
mercury(0)  (ISO)
metformin  (ISO)
methapyrilene  (ISO)
methotrexate  (EXP)
methoxychlor  (ISO)
mifepristone  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
naphthalene  (ISO)
nefazodone  (ISO)
nickel dichloride  (ISO)
nitrofen  (ISO)
NS-398  (ISO)
O-methyleugenol  (EXP)
ochratoxin A  (EXP)
oleic acid  (EXP)
omeprazole  (ISO)
ozone  (ISO)
paeoniflorin  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP,ISO)
perindopril  (ISO)
pirinixic acid  (ISO)
potassium bromate  (EXP)
prochloraz  (EXP)
progesterone  (ISO)
propiconazole  (EXP,ISO)
quartz  (ISO)
quercetin  (EXP,ISO)
quinolin-8-ol  (EXP)
rac-lactic acid  (EXP)
resveratrol  (ISO)
rimonabant  (ISO)
rotenone  (ISO)
salicylic acid  (ISO)
SB 203580  (ISO)
selenium atom  (ISO)
sildenafil citrate  (ISO)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
streptozocin  (ISO)
tamoxifen  (ISO)
tauroursodeoxycholic acid  (ISO)
tebuconazole  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thiamethoxam  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trans-caffeic acid  (ISO)
tremolite asbestos  (ISO)
triadimefon  (ISO)
trimethyltin  (ISO)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (ISO)
trypanothione  (EXP)
trypanothione disulfide  (EXP)
urethane  (EXP)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP,ISO)
WIN 55212-2  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adaptive immune response  (IEA)
aging  (IEA,ISO)
arginine catabolic process  (TAS)
arginine catabolic process to ornithine  (IBA,ISO)
arginine metabolic process  (IEA,ISO)
cellular response to dexamethasone stimulus  (IEA,ISO)
cellular response to glucagon stimulus  (IEA,ISO)
cellular response to hydrogen peroxide  (IEA,ISO)
cellular response to interleukin-4  (IEA,ISO)
cellular response to lipopolysaccharide  (IEA,ISO)
cellular response to transforming growth factor beta stimulus  (IEA,ISO)
collagen biosynthetic process  (IEA,ISO)
defense response to protozoan  (IEA)
female pregnancy  (ISO)
innate immune response  (IEA)
liver development  (IEA,ISO)
lung development  (IEA,ISO)
mammary gland involution  (IEA,ISO)
maternal process involved in female pregnancy  (IEA,ISO)
negative regulation of activated T cell proliferation  (IEA)
negative regulation of interferon-gamma-mediated signaling pathway  (IMP)
negative regulation of T cell proliferation  (IDA)
negative regulation of T-helper 2 cell cytokine production  (IEA)
positive regulation of endothelial cell proliferation  (IEA,ISO)
positive regulation of neutrophil mediated killing of fungus  (IMP)
regulation of L-arginine import  (IEA,ISO)
response to amine  (IEA,ISO)
response to amino acid  (IEA,ISO)
response to axon injury  (IEA,ISO)
response to cadmium ion  (IEA,ISO)
response to herbicide  (IEA,ISO)
response to lipopolysaccharide  (ISO)
response to manganese ion  (IEA,ISO)
response to methylmercury  (IEA,ISO)
response to peptide hormone  (ISO)
response to selenium ion  (IEA,ISO)
response to steroid hormone  (ISO)
response to vitamin A  (IEA,ISO)
response to vitamin E  (IEA,ISO)
response to wounding  (ISO)
response to xenobiotic stimulus  (IEA,ISO)
response to zinc ion  (IEA,ISO)
urea cycle  (IEA,ISO)

Cellular Component

Molecular Function

References

References - curated
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2. Barber T, etal., Biochem J. 1985 Sep 15;230(3):675-81.
3. Beck B, etal., J Surg Res. 2005 Jun 1;126(1):19-26.
4. Belik J, etal., Am J Physiol Lung Cell Mol Physiol. 2009 Oct;297(4):L777-84. Epub 2009 Aug 7.
5. Biczo G, etal., Pancreas. 2010 Aug;39(6):868-74.
6. Cheng PN, etal., Cancer Res. 2007 Jan 1;67(1):309-17.
7. Demougeot C, etal., Life Sci. 2007 Feb 27;80(12):1128-34. Epub 2006 Dec 14.
8. GOA_HUMAN data from the GO Consortium
9. Grandvuillemin I, etal., Am J Physiol Regul Integr Comp Physiol. 2018 Sep 1;315(3):R509-R520. doi: 10.1152/ajpregu.00354.2017. Epub 2018 May 9.
10. Kim J, etal., J Microbiol Biotechnol. 2020 Mar 28;30(3):427-438. doi: 10.4014/jmb.1910.10055.
11. Koga T, etal., Exp Eye Res 2002 Dec;75(6):659-67.
12. Li H, etal., J Allergy Clin Immunol. 2006 Jan;117(1):119-26. Epub 2005 Nov 28.
13. Murayama H, etal., Clin Chim Acta. 2007 Jan;375(1-2):63-8. Epub 2006 Jun 21.
14. OMIM Disease Annotation Pipeline
15. Pipeline to import KEGG annotations from KEGG into RGD
16. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
17. Pipeline to import SMPDB annotations from SMPDB into RGD
18. Poljakovic M, etal., J Toxicol Environ Health A. 2007 Jan 15;70(2):118-27.
19. Pooranaperundevi M, etal., Singapore Med J. 2010 May;51(5):389-98.
20. Que LG, etal., Am J Physiol. 1998 Jul;275(1 Pt 1):L96-102.
21. Reid KM, etal., Am J Physiol Gastrointest Liver Physiol. 2007 Feb;292(2):G512-7. Epub 2006 Oct 5.
22. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
23. RGD automated import pipeline for gene-chemical interactions
24. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
25. Romero MJ, etal., Circ Res. 2008 Jan 4;102(1):95-102. Epub 2007 Oct 25.
26. Schwartz IF, etal., Kidney Blood Press Res. 2008;31(3):210-6. Epub 2008 Jun 14.
27. Schwartz IF, etal., Kidney Int 2002 Nov;62(5):1700-6.
28. Tu L, etal., Oncotarget. 2017 Apr 25;8(17):27704-27714. doi: 10.18632/oncotarget.15984.
29. Tygstrup N, etal., Biochem Biophys Res Commun 2002 Jan 11;290(1):518-25.
30. Uchino T, etal., Hum Genet. 1995 Sep;96(3):255-60.
31. Vonk JM, etal., Pharmacogenet Genomics. 2010 Mar;20(3):179-86.
32. Wei CL, etal., Biochem Pharmacol. 2002 Mar 15;63(6):1043-50.
33. Witte MB, etal., J Gastrointest Surg. 2003 Mar-Apr;7(3):378-85.
34. Witte MB, etal., J Surg Res 2002 Jun 1;105(1):35-42.
35. Yagi Y, etal., Am J Clin Pathol. 1988 Jun;89(6):735-41.
36. Zimmermann N, etal., J Clin Invest. 2003 Jun;111(12):1863-74.
Additional References at PubMed
PMID:1463019   PMID:1598908   PMID:2241902   PMID:2365823   PMID:2913054   PMID:3174433   PMID:3540966   PMID:3658675   PMID:3752085   PMID:9686347   PMID:10502833   PMID:10542097  
PMID:11224628   PMID:11329013   PMID:11750286   PMID:11849441   PMID:12083807   PMID:12115381   PMID:12139964   PMID:12477932   PMID:14574404   PMID:14702039   PMID:15489334   PMID:15546957  
PMID:15998894   PMID:16141327   PMID:16709924   PMID:16709958   PMID:16720041   PMID:17113085   PMID:17119118   PMID:17255300   PMID:17347269   PMID:17369504   PMID:17469833   PMID:17703412  
PMID:17934065   PMID:18478052   PMID:18617639   PMID:18957279   PMID:19052914   PMID:19101531   PMID:19253371   PMID:19258923   PMID:19281908   PMID:19282757   PMID:19286931   PMID:19293328  
PMID:19303401   PMID:19431148   PMID:19508396   PMID:19615732   PMID:19636440   PMID:19684035   PMID:19687346   PMID:19713467   PMID:19789190   PMID:19801451   PMID:19896478   PMID:19913121  
PMID:19936428   PMID:20032293   PMID:20153713   PMID:20200399   PMID:20301338   PMID:20301396   PMID:20473875   PMID:20503287   PMID:20562859   PMID:20628086   PMID:20661013   PMID:20711410  
PMID:20851928   PMID:20942574   PMID:21039601   PMID:21182205   PMID:21206033   PMID:21217072   PMID:21330347   PMID:21533769   PMID:21552555   PMID:21630459   PMID:21704615   PMID:21800051  
PMID:21870783   PMID:21873635   PMID:21945700   PMID:21988832   PMID:22145905   PMID:22189190   PMID:22298472   PMID:22582175   PMID:22827286   PMID:22869115   PMID:22959135   PMID:23061982  
PMID:23111165   PMID:23327293   PMID:23348905   PMID:23376485   PMID:23454751   PMID:23505904   PMID:23740519   PMID:23850196   PMID:23859858   PMID:24005081   PMID:24060156   PMID:24281232  
PMID:24332808   PMID:24376824   PMID:24457600   PMID:24711643   PMID:24715304   PMID:24763700   PMID:24919409   PMID:24981860   PMID:25027824   PMID:25124926   PMID:25205225   PMID:25324306  
PMID:25437558   PMID:25501824   PMID:25577247   PMID:25786588   PMID:25889611   PMID:25921289   PMID:25926674   PMID:25959826   PMID:25961062   PMID:25963833   PMID:26030248   PMID:26061397  
PMID:26119192   PMID:26126810   PMID:26161395   PMID:26186194   PMID:26227111   PMID:26515089   PMID:26537638   PMID:26538654   PMID:26571397   PMID:26647762   PMID:26725010   PMID:27006175  
PMID:27009269   PMID:27137985   PMID:27184483   PMID:27591049   PMID:27705803   PMID:27895230   PMID:27936099   PMID:28089752   PMID:28119468   PMID:28152520   PMID:28403218   PMID:28514442  
PMID:28685749   PMID:28747341   PMID:28813417   PMID:28970136   PMID:28977666   PMID:29117863   PMID:29227812   PMID:29298432   PMID:29467282   PMID:29507755   PMID:29548823   PMID:29563501  
PMID:29756997   PMID:29763854   PMID:29859926   PMID:29884807   PMID:30074212   PMID:30112629   PMID:30282613   PMID:30320132   PMID:30381539   PMID:30442662   PMID:30526064   PMID:30784016  
PMID:30824926   PMID:30890279   PMID:30990796   PMID:31059266   PMID:31177351   PMID:31180492   PMID:31278254   PMID:31320834   PMID:31406141   PMID:31478661   PMID:31482616   PMID:31733574  
PMID:31764771   PMID:32000896   PMID:32019673   PMID:32305173   PMID:32418491   PMID:32450233   PMID:32458472   PMID:32708826   PMID:32721242   PMID:32722521   PMID:32769929   PMID:32908313  
PMID:32920160   PMID:32941674   PMID:32989256   PMID:33117340   PMID:33128544   PMID:33369279   PMID:33460504  


Genomics

Comparative Map Data
ARG1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6131,470,832 - 131,584,332 (+)EnsemblGRCh38hg38GRCh38
GRCh386131,573,226 - 131,584,329 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376131,894,366 - 131,905,469 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366131,936,058 - 131,947,161 (+)NCBINCBI36hg18NCBI36
Build 346131,936,057 - 131,947,161NCBI
Celera6132,641,003 - 132,652,108 (+)NCBI
Cytogenetic Map6q23.2NCBI
HuRef6129,475,527 - 129,486,657 (+)NCBIHuRef
CHM1_16132,158,130 - 132,169,259 (+)NCBICHM1_1
Arg1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391024,791,105 - 24,803,368 (-)NCBIGRCm39mm39
GRCm39 Ensembl1024,791,119 - 24,803,382 (-)Ensembl
GRCm381024,915,207 - 24,927,470 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1024,915,221 - 24,927,484 (-)EnsemblGRCm38mm10GRCm38
MGSCv371024,635,013 - 24,647,276 (-)NCBIGRCm37mm9NCBIm37
MGSCv361024,604,637 - 24,617,896 (-)NCBImm8
Celera1025,846,180 - 25,858,528 (-)NCBICelera
Cytogenetic Map10A4NCBI
Arg1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2120,475,878 - 20,488,422 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl120,475,968 - 20,488,422 (+)Ensembl
Rnor_6.0121,525,421 - 21,537,872 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl121,525,421 - 21,537,863 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0123,005,260 - 23,017,714 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4120,998,894 - 21,011,275 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1120,999,006 - 21,011,333 (+)NCBI
Celera119,228,309 - 19,241,078 (+)NCBICelera
Cytogenetic Map1p12NCBI
Arg1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543612,235,767 - 12,251,972 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543612,235,767 - 12,247,817 (+)NCBIChiLan1.0ChiLan1.0
ARG1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.16133,479,966 - 133,491,162 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6133,479,966 - 133,491,162 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v06129,372,747 - 129,383,880 (+)NCBIMhudiblu_PPA_v0panPan3
ARG1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.112242,717 - 255,736 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl12242,714 - 255,305 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha12380,548 - 393,575 (-)NCBI
ROS_Cfam_1.012386,327 - 399,472 (-)NCBI
UMICH_Zoey_3.112243,210 - 256,371 (-)NCBI
UNSW_CanFamBas_1.012313,845 - 327,006 (-)NCBI
UU_Cfam_GSD_1.012384,828 - 398,005 (-)NCBI
ARG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl132,006,038 - 32,028,986 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1132,006,035 - 32,028,983 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2135,580,471 - 35,603,458 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ARG1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11341,971,955 - 41,983,372 (-)NCBI
ChlSab1.1 Ensembl1341,971,802 - 41,983,049 (-)Ensembl
Vero_WHO_p1.0NW_02366604014,133,035 - 14,144,266 (-)NCBI
Arg1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247535,737,720 - 5,749,313 (+)NCBI

Position Markers
SHGC-16174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376131,900,710 - 131,900,897UniSTSGRCh37
Build 366131,942,403 - 131,942,590RGDNCBI36
Celera6132,647,349 - 132,647,536RGD
Cytogenetic Map6q23UniSTS
Cytogenetic Map6q22.33-q24.1UniSTS
HuRef6129,481,894 - 129,482,081UniSTS
Stanford-G3 RH Map65356.0UniSTS
NCBI RH Map61528.3UniSTS
GeneMap99-G3 RH Map65659.0UniSTS
RH46810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376131,900,771 - 131,900,910UniSTSGRCh37
Build 366131,942,464 - 131,942,603RGDNCBI36
Celera6132,647,410 - 132,647,549RGD
Cytogenetic Map6q23UniSTS
Cytogenetic Map6q22.33-q24.1UniSTS
HuRef6129,481,955 - 129,482,094UniSTS
GeneMap99-GB4 RH Map6526.37UniSTS
GDB:190876  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376131,905,481 - 131,905,576UniSTSGRCh37
Build 366131,947,174 - 131,947,269RGDNCBI36
Celera6132,652,121 - 132,652,216RGD
Cytogenetic Map6q23UniSTS
Cytogenetic Map6q22.33-q24.1UniSTS
HuRef6129,486,666 - 129,486,761UniSTS
GDB:196989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376131,905,346 - 131,905,561UniSTSGRCh37
Build 366131,947,039 - 131,947,254RGDNCBI36
Celera6132,651,986 - 132,652,201RGD
Cytogenetic Map6q23UniSTS
Cytogenetic Map6q22.33-q24.1UniSTS
HuRef6129,486,531 - 129,486,746UniSTS
SGC38314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376131,902,657 - 131,902,910UniSTSGRCh37
Build 366131,944,350 - 131,944,603RGDNCBI36
Celera6132,649,296 - 132,649,549RGD
Cytogenetic Map6q23UniSTS
Cytogenetic Map6q22.33-q24.1UniSTS
HuRef6129,483,841 - 129,484,094UniSTS
GeneMap99-GB4 RH Map6526.37UniSTS
Whitehead-RH Map6749.6UniSTS
STS-M14502  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376131,905,258 - 131,905,427UniSTSGRCh37
Build 366131,946,951 - 131,947,120RGDNCBI36
Celera6132,651,898 - 132,652,067RGD
Cytogenetic Map6q23UniSTS
Cytogenetic Map6q22.33-q24.1UniSTS
HuRef6129,486,443 - 129,486,612UniSTS
GeneMap99-GB4 RH Map6527.79UniSTS
NCBI RH Map61538.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:517
Count of miRNA genes:277
Interacting mature miRNAs:285
Transcripts:ENST00000275196, ENST00000356962, ENST00000368087, ENST00000469293, ENST00000484820, ENST00000498260
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2 20 20 2 20
Medium 2 744 401 403 930 399 1270 10 4 3 16 190 4 36 696
Low 649 816 673 107 449 22 1298 448 1002 65 593 921 87 1 954 667 3 1
Below cutoff 1681 1396 617 89 382 15 1714 1673 2592 296 763 403 80 213 1392 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_031860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001244438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK128314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW236349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY074488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG217880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG542163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X12662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X12663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X12664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X12665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X12666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X12667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X12668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X12669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000275196
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6131,573,226 - 131,583,398 (+)Ensembl
RefSeq Acc Id: ENST00000356962   ⟹   ENSP00000349446
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6131,573,225 - 131,584,325 (+)Ensembl
RefSeq Acc Id: ENST00000368087   ⟹   ENSP00000357066
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6131,573,226 - 131,584,329 (+)Ensembl
RefSeq Acc Id: ENST00000469293
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6131,573,194 - 131,579,442 (+)Ensembl
RefSeq Acc Id: ENST00000484820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6131,576,634 - 131,579,418 (+)Ensembl
RefSeq Acc Id: ENST00000498260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6131,573,242 - 131,579,665 (+)Ensembl
RefSeq Acc Id: ENST00000640973   ⟹   ENSP00000492623
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6131,573,283 - 131,583,905 (+)Ensembl
RefSeq Acc Id: ENST00000672052
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6131,470,832 - 131,579,330 (+)Ensembl
RefSeq Acc Id: ENST00000672233   ⟹   ENSP00000499826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6131,470,918 - 131,583,978 (+)Ensembl
RefSeq Acc Id: ENST00000673234   ⟹   ENSP00000499885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6131,470,871 - 131,584,029 (+)Ensembl
RefSeq Acc Id: ENST00000673427   ⟹   ENSP00000500160
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6131,573,229 - 131,584,332 (+)Ensembl
RefSeq Acc Id: NM_000045   ⟹   NP_000036
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,573,226 - 131,584,329 (+)NCBI
GRCh376131,894,344 - 131,905,472 (+)NCBI
Build 366131,936,058 - 131,947,161 (+)NCBI Archive
HuRef6129,475,527 - 129,486,657 (+)NCBI
CHM1_16132,158,130 - 132,169,259 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001244438   ⟹   NP_001231367
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,573,226 - 131,584,329 (+)NCBI
HuRef6129,475,527 - 129,486,657 (+)NCBI
CHM1_16132,158,130 - 132,169,259 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001369020   ⟹   NP_001355949
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,573,226 - 131,584,329 (+)NCBI
RefSeq Acc Id: NR_160934
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,573,226 - 131,584,329 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_000036   ⟸   NM_000045
- Peptide Label: isoform 2
- UniProtKB: P05089 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001231367   ⟸   NM_001244438
- Peptide Label: isoform 1
- UniProtKB: P05089 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001355949   ⟸   NM_001369020
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000500160   ⟸   ENST00000673427
RefSeq Acc Id: ENSP00000499885   ⟸   ENST00000673234
RefSeq Acc Id: ENSP00000492623   ⟸   ENST00000640973
RefSeq Acc Id: ENSP00000357066   ⟸   ENST00000368087
RefSeq Acc Id: ENSP00000349446   ⟸   ENST00000356962
RefSeq Acc Id: ENSP00000499826   ⟸   ENST00000672233

Promoters
RGD ID:7209151
Promoter ID:EPDNEW_H10321
Type:multiple initiation site
Name:ARG1_1
Description:arginase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,573,226 - 131,573,286EPDNEW
RGD ID:6849744
Promoter ID:EP30054
Type:single initiation site
Name:HS_ARG1
Description:Arginase liver.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 175; Mammalian arginase.
Tissues & Cell Lines:liver
Experiment Methods:Nuclease protection with homologous sequence ladder; Primer extension with homologous sequence ladder
Position:
Human AssemblyChrPosition (strand)Source
Build 366131,936,060 - 131,936,120EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000045.4(ARG1):c.291G>A (p.Leu97=) single nucleotide variant Arginase deficiency [RCV001394566] Chr6:131579271 [GRCh38]
Chr6:131900411 [GRCh37]
Chr6:6q23.2
likely benign
ARG1, 4-BP DEL, 262AAGA deletion Arginase deficiency [RCV000002487] Chr6:6q23 pathogenic
ARG1, 1-BP DEL, NT72 deletion Arginase deficiency [RCV000002488] Chr6:6q23 pathogenic
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter) single nucleotide variant Arginase deficiency [RCV000002489] Chr6:131583810 [GRCh38]
Chr6:131904950 [GRCh37]
Chr6:6q23.2
pathogenic|likely pathogenic
NM_000045.4(ARG1):c.869C>G (p.Thr290Ser) single nucleotide variant Arginase deficiency [RCV000002490] Chr6:131583808 [GRCh38]
Chr6:131904948 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.365G>A (p.Trp122Ter) single nucleotide variant Arginase deficiency [RCV000002491]|not provided [RCV000480650] Chr6:131581278 [GRCh38]
Chr6:131902418 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.703G>C (p.Gly235Arg) single nucleotide variant Arginase deficiency [RCV000002492] Chr6:131583392 [GRCh38]
Chr6:131904532 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.844del (p.Leu282fs) deletion Arginase deficiency [RCV000002493] Chr6:131583781 [GRCh38]
Chr6:131904921 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.32T>C (p.Ile11Thr) single nucleotide variant Arginase deficiency [RCV000002494] Chr6:131573314 [GRCh38]
Chr6:131894454 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.413G>T (p.Gly138Val) single nucleotide variant Arginase deficiency [RCV000002495] Chr6:131581326 [GRCh38]
Chr6:131902466 [GRCh37]
Chr6:6q23.2
pathogenic
ARG1, IVS4AS, A-G, -2 single nucleotide variant Arginase deficiency [RCV000002497] Chr6:6q23 pathogenic
NM_000045.4(ARG1):c.61C>T (p.Arg21Ter) single nucleotide variant Arginase deficiency [RCV000002498]|not provided [RCV000421601] Chr6:131576666 [GRCh38]
Chr6:131897806 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.57+1G>A single nucleotide variant Arginase deficiency [RCV000002496] Chr6:131573340 [GRCh38]
Chr6:131894480 [GRCh37]
Chr6:6q23.2
pathogenic
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 copy number loss See cases [RCV000051196] Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2
pathogenic
NM_000045.4(ARG1):c.270C>T (p.Asn90=) single nucleotide variant Arginase deficiency [RCV000296734]|Mental retardation, autosomal recessive 18 [RCV000615489]|not specified [RCV000123688] Chr6:131579250 [GRCh38]
Chr6:131900390 [GRCh37]
Chr6:6q23.2
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 6q23.2(chr6:131477455-131596004)x3 copy number gain See cases [RCV000140296] Chr6:131477455..131596004 [GRCh38]
Chr6:131798595..131917144 [GRCh37]
Chr6:131840288..131958837 [NCBI36]
Chr6:6q23.2
likely benign
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1
pathogenic
GRCh38/hg38 6q22.33-23.2(chr6:129191313-132131620)x1 copy number loss See cases [RCV000142349] Chr6:129191313..132131620 [GRCh38]
Chr6:129512458..132452760 [GRCh37]
Chr6:129554151..132494453 [NCBI36]
Chr6:6q22.33-23.2
likely pathogenic
GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1 copy number loss See cases [RCV000142805] Chr6:126494533..132497855 [GRCh38]
Chr6:126815679..132818994 [GRCh37]
Chr6:126857372..132860687 [NCBI36]
Chr6:6q22.32-23.2
likely pathogenic
NM_000045.4(ARG1):c.272dup (p.Arg92fs) duplication Arginase deficiency [RCV000666741]|not provided [RCV000185755] Chr6:131579250..131579251 [GRCh38]
Chr6:131900390..131900391 [GRCh37]
Chr6:6q23.2
pathogenic|likely pathogenic
NM_000045.4(ARG1):c.372dup (p.Ala125fs) duplication Arginase deficiency [RCV000669434] Chr6:131581284..131581285 [GRCh38]
Chr6:131902424..131902425 [GRCh37]
Chr6:6q23.2
pathogenic|likely pathogenic
NM_000045.4(ARG1):c.874del (p.Thr292fs) deletion Arginase deficiency [RCV000670532] Chr6:131583812 [GRCh38]
Chr6:131904952 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_000045.4(ARG1):c.-21A>C single nucleotide variant Arginase deficiency [RCV000269759] Chr6:131573262 [GRCh38]
Chr6:131894402 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.*310A>G single nucleotide variant Arginase deficiency [RCV000403949] Chr6:131584218 [GRCh38]
Chr6:131905358 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.57G>A (p.Gln19=) single nucleotide variant Arginase deficiency [RCV000327210] Chr6:131573339 [GRCh38]
Chr6:131894479 [GRCh37]
Chr6:6q23.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000045.3(ARG1):c.-70A>G single nucleotide variant Arginase deficiency [RCV000328324] Chr6:131573213 [GRCh38]
Chr6:131894353 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.75A>G (p.Glu25=) single nucleotide variant Arginase deficiency [RCV000388499]|not specified [RCV000615418] Chr6:131576680 [GRCh38]
Chr6:131897820 [GRCh37]
Chr6:6q23.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000045.4(ARG1):c.944T>C (p.Ile315Thr) single nucleotide variant Arginase deficiency [RCV000281645] Chr6:131583883 [GRCh38]
Chr6:131905023 [GRCh37]
Chr6:6q23.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000045.3(ARG1):c.-65C>T single nucleotide variant Arginase deficiency [RCV000366618] Chr6:131573218 [GRCh38]
Chr6:131894358 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_000045.4(ARG1):c.709G>A (p.Asp237Asn) single nucleotide variant not provided [RCV000489823] Chr6:131583398 [GRCh38]
Chr6:131904538 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_000045.4(ARG1):c.305+7T>C single nucleotide variant Arginase deficiency [RCV000330678] Chr6:131579292 [GRCh38]
Chr6:131900432 [GRCh37]
Chr6:6q23.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000045.4(ARG1):c.*73A>G single nucleotide variant Arginase deficiency [RCV000334406] Chr6:131583981 [GRCh38]
Chr6:131905121 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.566T>A (p.Ile189Asn) single nucleotide variant Arginase deficiency [RCV000387442] Chr6:131583065 [GRCh38]
Chr6:131904205 [GRCh37]
Chr6:6q23.2
uncertain significance
GRCh37/hg19 6q23.2(chr6:131703293-132212694)x3 copy number gain See cases [RCV000599566] Chr6:131703293..132212694 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.83C>T (p.Pro28Leu) single nucleotide variant not provided [RCV000415939] Chr6:131576688 [GRCh38]
Chr6:131897828 [GRCh37]
Chr6:6q23.2
uncertain significance
GRCh37/hg19 6q23.2(chr6:131624204-132219490)x3 copy number gain See cases [RCV000447116] Chr6:131624204..132219490 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.621A>C (p.Gly207=) single nucleotide variant Arginase deficiency [RCV001433435]|not specified [RCV000425457] Chr6:131583120 [GRCh38]
Chr6:131904260 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.131-11T>C single nucleotide variant not specified [RCV000439574] Chr6:131579100 [GRCh38]
Chr6:131900240 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.561-9_561-8del microsatellite not specified [RCV000483892] Chr6:131583048..131583049 [GRCh38]
Chr6:131904188..131904189 [GRCh37]
Chr6:6q23.2
likely benign
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_000045.4(ARG1):c.466-1G>C single nucleotide variant Arginase deficiency [RCV000666865]|not provided [RCV000484167] Chr6:131582620 [GRCh38]
Chr6:131903760 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.703G>A (p.Gly235Arg) single nucleotide variant Arginase deficiency [RCV000667889]|not provided [RCV000485579] Chr6:131583392 [GRCh38]
Chr6:131904532 [GRCh37]
Chr6:6q23.2
pathogenic|likely pathogenic
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro) single nucleotide variant Arginase deficiency [RCV000668053]|not provided [RCV000482365] Chr6:131583831 [GRCh38]
Chr6:131904971 [GRCh37]
Chr6:6q23.2
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q23.2(chr6:131605284-132219490)x1 copy number loss See cases [RCV000511614] Chr6:131605284..132219490 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.640_643dup (p.Thr215fs) duplication Arginase deficiency [RCV000669017] Chr6:131583136..131583137 [GRCh38]
Chr6:131904276..131904277 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_000045.4(ARG1):c.435_437dup (p.Ser146dup) duplication Arginase deficiency [RCV000669533] Chr6:131581347..131581348 [GRCh38]
Chr6:131902487..131902488 [GRCh37]
Chr6:6q23.2
uncertain significance
GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626432] Chr6:112939290..132327952 [GRCh37]
Chr6:6q21-23.2
drug response
NM_000045.4(ARG1):c.938del (p.Lys313fs) deletion Arginase deficiency [RCV000556422] Chr6:131583876 [GRCh38]
Chr6:131905016 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.207T>G (p.Asn69Lys) single nucleotide variant Arginase deficiency [RCV000634864] Chr6:131579187 [GRCh38]
Chr6:131900327 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.62G>A (p.Arg21Gln) single nucleotide variant Arginase deficiency [RCV000709774]|not specified [RCV000606274] Chr6:131576667 [GRCh38]
Chr6:131897807 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance|not provided
NM_000045.4(ARG1):c.306-612C>T single nucleotide variant not specified [RCV000602085] Chr6:131580607 [GRCh38]
Chr6:131901747 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.912C>T (p.Phe304=) single nucleotide variant Arginase deficiency [RCV000914514]|not specified [RCV000607924] Chr6:131583851 [GRCh38]
Chr6:131904991 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_000045.4(ARG1):c.913G>C (p.Gly305Arg) single nucleotide variant Arginase deficiency [RCV000664784] Chr6:131583852 [GRCh38]
Chr6:131904992 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.241G>A (p.Ala81Thr) single nucleotide variant Arginase deficiency [RCV000634866] Chr6:131579221 [GRCh38]
Chr6:131900361 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.543C>T (p.Asp181=) single nucleotide variant Arginase deficiency [RCV000975704]|not specified [RCV000606744] Chr6:131582698 [GRCh38]
Chr6:131903838 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.575_577dup (p.Leu193_Gly194insPro) duplication Arginase deficiency [RCV000672844] Chr6:131583073..131583074 [GRCh38]
Chr6:131904213..131904214 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.130+1G>T single nucleotide variant Arginase deficiency [RCV000671671] Chr6:131576736 [GRCh38]
Chr6:131897876 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu) single nucleotide variant Arginase deficiency [RCV000671959] Chr6:131581338 [GRCh38]
Chr6:131902478 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.131-7_131-2del deletion Arginase deficiency [RCV000667937] Chr6:131579099..131579104 [GRCh38]
Chr6:131900239..131900244 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.129del (p.Glu44fs) deletion Arginase deficiency [RCV000674133] Chr6:131576733 [GRCh38]
Chr6:131897873 [GRCh37]
Chr6:6q23.2
pathogenic|likely pathogenic
NM_000045.4(ARG1):c.787G>T (p.Glu263Ter) single nucleotide variant Arginase deficiency [RCV000674156] Chr6:131583476 [GRCh38]
Chr6:131904616 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_000045.4(ARG1):c.945dup (p.Asp316Ter) duplication Arginase deficiency [RCV000668669] Chr6:131583882..131583883 [GRCh38]
Chr6:131905022..131905023 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.124_126del (p.Glu42del) deletion Arginase deficiency [RCV000669570] Chr6:131576727..131576729 [GRCh38]
Chr6:131897867..131897869 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.212G>C (p.Arg71Thr) single nucleotide variant Arginase deficiency [RCV000670052] Chr6:131579192 [GRCh38]
Chr6:131900332 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.860AAG[1] (p.Glu288del) microsatellite Arginase deficiency [RCV000665205] Chr6:131583797..131583799 [GRCh38]
Chr6:131904937..131904939 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln) single nucleotide variant Arginase deficiency [RCV000665488] Chr6:131583862 [GRCh38]
Chr6:131905002 [GRCh37]
Chr6:6q23.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000045.4(ARG1):c.913G>A (p.Gly305Arg) single nucleotide variant Arginase deficiency [RCV000667699] Chr6:131583852 [GRCh38]
Chr6:131904992 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.959_962del (p.Pro320fs) deletion Arginase deficiency [RCV000671642] Chr6:131583895..131583898 [GRCh38]
Chr6:131905035..131905038 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.131-9dup duplication Arginase deficiency [RCV000674392] Chr6:131579097..131579098 [GRCh38]
Chr6:131900237..131900238 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.2T>C (p.Met1Thr) single nucleotide variant Arginase deficiency [RCV000671896] Chr6:131573284 [GRCh38]
Chr6:131894424 [GRCh37]
Chr6:6q23.2
pathogenic|likely pathogenic
GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1 copy number loss not provided [RCV000682724] Chr6:131388023..137469640 [GRCh37]
Chr6:6q23.2-23.3
pathogenic
NM_000045.4(ARG1):c.767_769del (p.Glu256del) deletion Arginase deficiency [RCV000665961] Chr6:131583454..131583456 [GRCh38]
Chr6:131904594..131904596 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.560+5G>A single nucleotide variant Arginase deficiency [RCV000672772] Chr6:131582720 [GRCh38]
Chr6:131903860 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.58-2A>C single nucleotide variant Arginase deficiency [RCV000664471] Chr6:131576661 [GRCh38]
Chr6:131897801 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg) single nucleotide variant Arginase deficiency [RCV000666611] Chr6:131579275 [GRCh38]
Chr6:131900415 [GRCh37]
Chr6:6q23.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000045.4(ARG1):c.80G>A (p.Gly27Asp) single nucleotide variant Arginase deficiency [RCV000665999] Chr6:131576685 [GRCh38]
Chr6:131897825 [GRCh37]
Chr6:6q23.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000045.4(ARG1):c.693del (p.Phe231fs) deletion Arginase deficiency [RCV000674834] Chr6:131583379 [GRCh38]
Chr6:131904519 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_000045.4(ARG1):c.189del (p.Gln65fs) deletion Arginase deficiency [RCV000701044] Chr6:131579167 [GRCh38]
Chr6:131900307 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.422A>T (p.His141Leu) single nucleotide variant Arginase deficiency [RCV000673618] Chr6:131581335 [GRCh38]
Chr6:131902475 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.466-2A>G single nucleotide variant Arginase deficiency [RCV000673724] Chr6:131582619 [GRCh38]
Chr6:131903759 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_000045.4(ARG1):c.130G>C (p.Glu44Gln) single nucleotide variant Arginase deficiency [RCV000692881] Chr6:131576735 [GRCh38]
Chr6:131897875 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.599_601del (p.Met200del) deletion Arginase deficiency [RCV000692884] Chr6:131583097..131583099 [GRCh38]
Chr6:131904237..131904239 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.769G>C (p.Gly257Arg) single nucleotide variant Arginase deficiency [RCV000707110] Chr6:131583458 [GRCh38]
Chr6:131904598 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.308T>C (p.Leu103Ser) single nucleotide variant Arginase deficiency [RCV000703289] Chr6:131581221 [GRCh38]
Chr6:131902361 [GRCh37]
Chr6:6q23.2
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_000045.4(ARG1):c.465+101G>A single nucleotide variant not provided [RCV001546424] Chr6:131581479 [GRCh38]
Chr6:131902619 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.15C>G (p.Ser5=) single nucleotide variant not provided [RCV000978502] Chr6:131573297 [GRCh38]
Chr6:131894437 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.856C>A (p.Pro286Thr) single nucleotide variant Arginase deficiency [RCV001065307] Chr6:131583795 [GRCh38]
Chr6:131904935 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.404C>T (p.Thr135Ile) single nucleotide variant Arginase deficiency [RCV000987781] Chr6:131581317 [GRCh38]
Chr6:131902457 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_000045.4(ARG1):c.42T>A (p.Pro14=) single nucleotide variant Arginase deficiency [RCV000914436] Chr6:131573324 [GRCh38]
Chr6:131894464 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.953T>C (p.Leu318Pro) single nucleotide variant Arginase deficiency [RCV000865497] Chr6:131583892 [GRCh38]
Chr6:131905032 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.48A>C (p.Ser16=) single nucleotide variant Arginase deficiency [RCV001469785]|not provided [RCV000942066] Chr6:131573330 [GRCh38]
Chr6:131894470 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.305+8T>C single nucleotide variant Arginase deficiency [RCV000916148] Chr6:131579293 [GRCh38]
Chr6:131900433 [GRCh37]
Chr6:6q23.2
likely benign
GRCh37/hg19 6q22.33-23.2(chr6:129513837-132618991) copy number loss not provided [RCV000767715] Chr6:129513837..132618991 [GRCh37]
Chr6:6q22.33-23.2
likely pathogenic
NM_000045.4(ARG1):c.142A>T (p.Lys48Ter) single nucleotide variant Arginase deficiency [RCV001050878] Chr6:131579122 [GRCh38]
Chr6:131900262 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly) single nucleotide variant Arginase deficiency [RCV000779489] Chr6:131581296 [GRCh38]
Chr6:131902436 [GRCh37]
Chr6:6q23.2
pathogenic
NC_000006.12:g.(?_131576653)_(131583918_?)del deletion Arginase deficiency [RCV000814626] Chr6:131576653..131583918 [GRCh38]
Chr6:131897793..131905058 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.150T>C (p.Tyr50=) single nucleotide variant Arginase deficiency [RCV000983627] Chr6:131579130 [GRCh38]
Chr6:131900270 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.336C>T (p.Ala112=) single nucleotide variant not provided [RCV000882421] Chr6:131581249 [GRCh38]
Chr6:131902389 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.474T>C (p.Asp158=) single nucleotide variant Arginase deficiency [RCV000864292] Chr6:131582629 [GRCh38]
Chr6:131903769 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.594T>C (p.Phe198=) single nucleotide variant Arginase deficiency [RCV000873257] Chr6:131583093 [GRCh38]
Chr6:131904233 [GRCh37]
Chr6:6q23.2
benign
NM_000045.4(ARG1):c.840A>C (p.Pro280=) single nucleotide variant Arginase deficiency [RCV001432432]|not provided [RCV000978697] Chr6:131583779 [GRCh38]
Chr6:131904919 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.612C>A (p.Asp204Glu) single nucleotide variant Arginase deficiency [RCV000817567] Chr6:131583111 [GRCh38]
Chr6:131904251 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.702C>T (p.Asp234=) single nucleotide variant Arginase deficiency [RCV001435507]|not provided [RCV000840131] Chr6:131583391 [GRCh38]
Chr6:131904531 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.234G>A (p.Glu78=) single nucleotide variant Arginase deficiency [RCV000870964] Chr6:131579214 [GRCh38]
Chr6:131900354 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.317G>A (p.Gly106Glu) single nucleotide variant Arginase deficiency [RCV000987780] Chr6:131581230 [GRCh38]
Chr6:131902370 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_000045.4(ARG1):c.811_812del (p.Ser271fs) microsatellite Arginase deficiency [RCV000805737] Chr6:131583747..131583748 [GRCh38]
Chr6:131904887..131904888 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.3G>A (p.Met1Ile) single nucleotide variant Arginase deficiency [RCV000799290] Chr6:131573285 [GRCh38]
Chr6:131894425 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_000045.4(ARG1):c.333T>C (p.His111=) single nucleotide variant Arginase deficiency [RCV001402360]|not provided [RCV000841362] Chr6:131581246 [GRCh38]
Chr6:131902386 [GRCh37]
Chr6:6q23.2
likely benign
GRCh37/hg19 6q23.2(chr6:131673206-132706248)x1 copy number loss not provided [RCV000848451] Chr6:131673206..132706248 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.804G>C (p.Gly268=) single nucleotide variant Arginase deficiency [RCV001151466] Chr6:131583743 [GRCh38]
Chr6:131904883 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.425del (p.Gly142fs) deletion Arginase deficiency [RCV000814071] Chr6:131581337 [GRCh38]
Chr6:131902477 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.742G>C (p.Val248Leu) single nucleotide variant Arginase deficiency [RCV001066723] Chr6:131583431 [GRCh38]
Chr6:131904571 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.666-2A>G single nucleotide variant not provided [RCV001091213] Chr6:131583353 [GRCh38]
Chr6:131904493 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.342C>T (p.Val114=) single nucleotide variant Arginase deficiency [RCV000893566] Chr6:131581255 [GRCh38]
Chr6:131902395 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.745G>C (p.Val249Leu) single nucleotide variant Arginase deficiency [RCV001240670] Chr6:131583434 [GRCh38]
Chr6:131904574 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.646_649del (p.Leu216fs) deletion Arginase deficiency [RCV000987782] Chr6:131583143..131583146 [GRCh38]
Chr6:131904283..131904286 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.434T>A (p.Val145Glu) single nucleotide variant Arginase deficiency [RCV001172232] Chr6:131581347 [GRCh38]
Chr6:131902487 [GRCh37]
Chr6:6q23.2
pathogenic|uncertain significance
NM_000045.4(ARG1):c.482G>C (p.Gly161Ala) single nucleotide variant Arginase deficiency [RCV001151465] Chr6:131582637 [GRCh38]
Chr6:131903777 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.306-553T>C single nucleotide variant not provided [RCV001556853] Chr6:131580666 [GRCh38]
Chr6:131901806 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.428A>G (p.Gln143Arg) single nucleotide variant Arginase deficiency [RCV001544512] Chr6:131581341 [GRCh38]
Chr6:131902481 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_000045.4(ARG1):c.803-8T>C single nucleotide variant Arginase deficiency [RCV000907048] Chr6:131583734 [GRCh38]
Chr6:131904874 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.687A>G (p.Leu229=) single nucleotide variant Arginase deficiency [RCV001394555]|not provided [RCV000980386] Chr6:131583376 [GRCh38]
Chr6:131904516 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.525G>A (p.Val175=) single nucleotide variant Arginase deficiency [RCV001476852]|not provided [RCV000888379] Chr6:131582680 [GRCh38]
Chr6:131903820 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.57+12del deletion Arginase deficiency [RCV001510243]|not provided [RCV000930038] Chr6:131573346 [GRCh38]
Chr6:131894486 [GRCh37]
Chr6:6q23.2
benign
NM_000045.4(ARG1):c.798A>C (p.Lys266Asn) single nucleotide variant Arginase deficiency [RCV001241080]|not provided [RCV001560491] Chr6:131583487 [GRCh38]
Chr6:131904627 [GRCh37]
Chr6:6q23.2
uncertain significance
Single allele single nucleotide variant not provided [RCV001566296] Chr6:131572958 [GRCh38]
Chr6:131894098 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.928G>T (p.Gly310Cys) single nucleotide variant Arginase deficiency [RCV001151467] Chr6:131583867 [GRCh38]
Chr6:131905007 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.336dup (p.Arg113fs) duplication Arginase deficiency [RCV001041742] Chr6:131581247..131581248 [GRCh38]
Chr6:131902387..131902388 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.464dup (p.Ile156fs) duplication Arginase deficiency [RCV001057261] Chr6:131581374..131581375 [GRCh38]
Chr6:131902514..131902515 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.271G>A (p.Gly91Arg) single nucleotide variant Arginase deficiency [RCV001156892] Chr6:131579251 [GRCh38]
Chr6:131900391 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.746T>C (p.Val249Ala) single nucleotide variant Arginase deficiency [RCV001232250] Chr6:131583435 [GRCh38]
Chr6:131904575 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.936C>T (p.His312=) single nucleotide variant Arginase deficiency [RCV001151468] Chr6:131583875 [GRCh38]
Chr6:131905015 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.131-1G>C single nucleotide variant Arginase deficiency [RCV001039338] Chr6:131579110 [GRCh38]
Chr6:131900250 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_000045.4(ARG1):c.370G>T (p.Asp124Tyr) single nucleotide variant Arginase deficiency [RCV001332127] Chr6:131581283 [GRCh38]
Chr6:131902423 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_000045.4(ARG1):c.306-177A>C single nucleotide variant not provided [RCV001537193] Chr6:131581042 [GRCh38]
Chr6:131902182 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.802+76dup duplication Arginase deficiency [RCV001554020] Chr6:131583564..131583565 [GRCh38]
Chr6:131904704..131904705 [GRCh37]
Chr6:6q23.2
benign
NM_000045.4(ARG1):c.266A>C (p.Lys89Thr) single nucleotide variant Arginase deficiency [RCV001337982] Chr6:131579246 [GRCh38]
Chr6:131900386 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.939G>C (p.Lys313Asn) single nucleotide variant Arginase deficiency [RCV001317715] Chr6:131583878 [GRCh38]
Chr6:131905018 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.541G>T (p.Asp181Tyr) single nucleotide variant Arginase deficiency [RCV001301745] Chr6:131582696 [GRCh38]
Chr6:131903836 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.956A>G (p.Asn319Ser) single nucleotide variant Arginase deficiency [RCV001342583] Chr6:131583895 [GRCh38]
Chr6:131905035 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.30del (p.Ile11fs) deletion Arginase deficiency [RCV001280807] Chr6:131573311 [GRCh38]
Chr6:131894451 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_000045.4(ARG1):c.685C>T (p.Leu229=) single nucleotide variant Arginase deficiency [RCV001392146] Chr6:131583374 [GRCh38]
Chr6:131904514 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.61C>G (p.Arg21Gly) single nucleotide variant Arginase deficiency [RCV001325256] Chr6:131576666 [GRCh38]
Chr6:131897806 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.22A>G (p.Ile8Val) single nucleotide variant Arginase deficiency [RCV001370099] Chr6:131573304 [GRCh38]
Chr6:131894444 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.630G>A (p.Lys210=) single nucleotide variant Arginase deficiency [RCV001414524] Chr6:131583129 [GRCh38]
Chr6:131904269 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.885A>G (p.Thr295=) single nucleotide variant Arginase deficiency [RCV001421475] Chr6:131583824 [GRCh38]
Chr6:131904964 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.210A>G (p.Pro70=) single nucleotide variant Arginase deficiency [RCV001392398] Chr6:131579190 [GRCh38]
Chr6:131900330 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.402A>C (p.Thr134=) single nucleotide variant Arginase deficiency [RCV001433515] Chr6:131581315 [GRCh38]
Chr6:131902455 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.135T>C (p.Cys45=) single nucleotide variant Arginase deficiency [RCV001392758] Chr6:131579115 [GRCh38]
Chr6:131900255 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.852G>C (p.Lys284Asn) single nucleotide variant Arginase deficiency [RCV001306286] Chr6:131583791 [GRCh38]
Chr6:131904931 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.475G>C (p.Val159Leu) single nucleotide variant Arginase deficiency [RCV001346646] Chr6:131582630 [GRCh38]
Chr6:131903770 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.59C>T (p.Pro20Leu) single nucleotide variant Arginase deficiency [RCV001316537] Chr6:131576664 [GRCh38]
Chr6:131897804 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.23T>A (p.Ile8Lys) single nucleotide variant Arginase deficiency [RCV001349284] Chr6:131573305 [GRCh38]
Chr6:131894445 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.349G>A (p.Asp117Asn) single nucleotide variant Arginase deficiency [RCV001349369] Chr6:131581262 [GRCh38]
Chr6:131902402 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.7G>C (p.Ala3Pro) single nucleotide variant Arginase deficiency [RCV001346839] Chr6:131573289 [GRCh38]
Chr6:131894429 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.892G>A (p.Ala298Thr) single nucleotide variant Arginase deficiency [RCV001320730] Chr6:131583831 [GRCh38]
Chr6:131904971 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.709G>C (p.Asp237His) single nucleotide variant Arginase deficiency [RCV001320918] Chr6:131583398 [GRCh38]
Chr6:131904538 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.700G>A (p.Asp234Asn) single nucleotide variant Arginase deficiency [RCV001342958] Chr6:131583389 [GRCh38]
Chr6:131904529 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.862G>A (p.Glu288Lys) single nucleotide variant Arginase deficiency [RCV001323461] Chr6:131583801 [GRCh38]
Chr6:131904941 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.289C>G (p.Leu97Val) single nucleotide variant Arginase deficiency [RCV001337295] Chr6:131579269 [GRCh38]
Chr6:131900409 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.926A>G (p.Glu309Gly) single nucleotide variant Arginase deficiency [RCV001351737] Chr6:131583865 [GRCh38]
Chr6:131905005 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.561-7T>A single nucleotide variant Arginase deficiency [RCV001421855] Chr6:131583053 [GRCh38]
Chr6:131904193 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.922C>T (p.Arg308Trp) single nucleotide variant Arginase deficiency [RCV001310012] Chr6:131583861 [GRCh38]
Chr6:131905001 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.839del (p.Pro280fs) deletion Arginase deficiency [RCV001375048] Chr6:131583776 [GRCh38]
Chr6:131904916 [GRCh37]
Chr6:6q23.2
pathogenic
NC_000006.11:g.(?_131894423)_(132211651_?)dup duplication Arginase deficiency [RCV001294718] Chr6:131894423..132211651 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.230G>A (p.Ser77Asn) single nucleotide variant Arginase deficiency [RCV001365632] Chr6:131579210 [GRCh38]
Chr6:131900350 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.183C>T (p.Asp61=) single nucleotide variant Arginase deficiency [RCV001473120] Chr6:131579163 [GRCh38]
Chr6:131900303 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.522T>C (p.Ile174=) single nucleotide variant Arginase deficiency [RCV001479183] Chr6:131582677 [GRCh38]
Chr6:131903817 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.564C>T (p.Tyr188=) single nucleotide variant Arginase deficiency [RCV001430223] Chr6:131583063 [GRCh38]
Chr6:131904203 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.471C>T (p.Pro157=) single nucleotide variant Arginase deficiency [RCV001460985] Chr6:131582626 [GRCh38]
Chr6:131903766 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.665+9C>A single nucleotide variant Arginase deficiency [RCV001473971] Chr6:131583173 [GRCh38]
Chr6:131904313 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.63A>G (p.Arg21=) single nucleotide variant Arginase deficiency [RCV001482601] Chr6:131576668 [GRCh38]
Chr6:131897808 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.804G>A (p.Gly268=) single nucleotide variant Arginase deficiency [RCV001477063] Chr6:131583743 [GRCh38]
Chr6:131904883 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.603T>G (p.Thr201=) single nucleotide variant Arginase deficiency [RCV001426219] Chr6:131583102 [GRCh38]
Chr6:131904242 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.606A>G (p.Glu202=) single nucleotide variant Arginase deficiency [RCV001472073] Chr6:131583105 [GRCh38]
Chr6:131904245 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.831A>G (p.Glu277=) single nucleotide variant Arginase deficiency [RCV001398540] Chr6:131583770 [GRCh38]
Chr6:131904910 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.726A>T (p.Pro242=) single nucleotide variant Arginase deficiency [RCV001477496] Chr6:131583415 [GRCh38]
Chr6:131904555 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.561-5T>C single nucleotide variant Arginase deficiency [RCV001399020] Chr6:131583055 [GRCh38]
Chr6:131904195 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.384T>C (p.Asp128=) single nucleotide variant Arginase deficiency [RCV001432442] Chr6:131581297 [GRCh38]
Chr6:131902437 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.819del (p.Asp274fs) deletion Arginase deficiency [RCV001389574] Chr6:131583758 [GRCh38]
Chr6:131904898 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.472G>A (p.Asp158Asn) single nucleotide variant not provided [RCV001531022] Chr6:131582627 [GRCh38]
Chr6:131903767 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_000045.4(ARG1):c.81C>T (p.Gly27=) single nucleotide variant Arginase deficiency [RCV001397803] Chr6:131576686 [GRCh38]
Chr6:131897826 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.684del (p.His228_Leu229insTer) deletion Arginase deficiency [RCV001389541] Chr6:131583373 [GRCh38]
Chr6:131904513 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.283C>T (p.Leu95=) single nucleotide variant Arginase deficiency [RCV001410040] Chr6:131579263 [GRCh38]
Chr6:131900403 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.366G>A (p.Trp122Ter) single nucleotide variant Arginase deficiency [RCV001380853] Chr6:131581279 [GRCh38]
Chr6:131902419 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.255A>G (p.Ala85=) single nucleotide variant Arginase deficiency [RCV001437792] Chr6:131579235 [GRCh38]
Chr6:131900375 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.492G>A (p.Trp164Ter) single nucleotide variant Arginase deficiency [RCV001388640] Chr6:131582647 [GRCh38]
Chr6:131903787 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.50del (p.Lys17fs) deletion Arginase deficiency [RCV001388185] Chr6:131573330 [GRCh38]
Chr6:131894470 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.822T>C (p.Asp274=) single nucleotide variant Arginase deficiency [RCV001410628] Chr6:131583761 [GRCh38]
Chr6:131904901 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.774C>T (p.Leu258=) single nucleotide variant Arginase deficiency [RCV001408313] Chr6:131583463 [GRCh38]
Chr6:131904603 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.312A>T (p.Ala104=) single nucleotide variant Arginase deficiency [RCV001445128] Chr6:131581225 [GRCh38]
Chr6:131902365 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.744C>T (p.Val248=) single nucleotide variant Arginase deficiency [RCV001447919] Chr6:131583433 [GRCh38]
Chr6:131904573 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.411T>C (p.Ser137=) single nucleotide variant Arginase deficiency [RCV001428381] Chr6:131581324 [GRCh38]
Chr6:131902464 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.306-5A>G single nucleotide variant Arginase deficiency [RCV001409222] Chr6:131581214 [GRCh38]
Chr6:131902354 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.272del (p.Gly91fs) deletion Arginase deficiency [RCV001384623] Chr6:131579251 [GRCh38]
Chr6:131900391 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.477G>A (p.Val159=) single nucleotide variant Arginase deficiency [RCV001454350] Chr6:131582632 [GRCh38]
Chr6:131903772 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.762C>T (p.Tyr254=) single nucleotide variant Arginase deficiency [RCV001495428] Chr6:131583451 [GRCh38]
Chr6:131904591 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.198T>C (p.Ile66=) single nucleotide variant Arginase deficiency [RCV001482642] Chr6:131579178 [GRCh38]
Chr6:131900318 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.501C>A (p.Pro167=) single nucleotide variant Arginase deficiency [RCV001496392] Chr6:131582656 [GRCh38]
Chr6:131903796 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.560+10T>C single nucleotide variant Arginase deficiency [RCV001480226] Chr6:131582725 [GRCh38]
Chr6:131903865 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.466-10G>A single nucleotide variant Arginase deficiency [RCV001497436] Chr6:131582611 [GRCh38]
Chr6:131903751 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.243T>C (p.Ala81=) single nucleotide variant Arginase deficiency [RCV001497815] Chr6:131579223 [GRCh38]
Chr6:131900363 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.378C>T (p.His126=) single nucleotide variant Arginase deficiency [RCV001461040] Chr6:131581291 [GRCh38]
Chr6:131902431 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.534C>T (p.Gly178=) single nucleotide variant Arginase deficiency [RCV001484995] Chr6:131582689 [GRCh38]
Chr6:131903829 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.93del (p.Arg32fs) deletion Arginase deficiency [RCV001390418] Chr6:131576698 [GRCh38]
Chr6:131897838 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.297A>C (p.Gly99=) single nucleotide variant Arginase deficiency [RCV001495991] Chr6:131579277 [GRCh38]
Chr6:131900417 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.294C>T (p.Gly98=) single nucleotide variant Arginase deficiency [RCV001486432] Chr6:131579274 [GRCh38]
Chr6:131900414 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.802+9C>G single nucleotide variant Arginase deficiency [RCV001458649] Chr6:131583500 [GRCh38]
Chr6:131904640 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.397C>T (p.Leu133=) single nucleotide variant Arginase deficiency [RCV001404010] Chr6:131581310 [GRCh38]
Chr6:131902450 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.549C>T (p.Asp183=) single nucleotide variant Arginase deficiency [RCV001438350] Chr6:131582704 [GRCh38]
Chr6:131903844 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.486C>T (p.Phe162=) single nucleotide variant Arginase deficiency [RCV001496924] Chr6:131582641 [GRCh38]
Chr6:131903781 [GRCh37]
Chr6:6q23.2
likely benign
NC_000006.11:g.(?_131894413)_(131905058_?)del deletion Arginase deficiency [RCV001386241] Chr6:131894413..131905058 [GRCh37]
Chr6:6q23.2
pathogenic
NM_000045.4(ARG1):c.87A>G (p.Thr29=) single nucleotide variant Arginase deficiency [RCV001466557] Chr6:131576692 [GRCh38]
Chr6:131897832 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.777C>T (p.Tyr259=) single nucleotide variant Arginase deficiency [RCV001483987] Chr6:131583466 [GRCh38]
Chr6:131904606 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.803-10G>A single nucleotide variant Arginase deficiency [RCV001394136] Chr6:131583732 [GRCh38]
Chr6:131904872 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.561-8T>C single nucleotide variant Arginase deficiency [RCV001426691] Chr6:131583052 [GRCh38]
Chr6:131904192 [GRCh37]
Chr6:6q23.2
likely benign
NM_000045.4(ARG1):c.558A>G (p.Glu186=) single nucleotide variant Arginase deficiency [RCV001441768] Chr6:131582713 [GRCh38]
Chr6:131903853 [GRCh37]
Chr6:6q23.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:663 AgrOrtholog
COSMIC ARG1 COSMIC
Ensembl Genes ENSG00000118520 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000349446 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000357066 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000492623 UniProtKB/Swiss-Prot
  ENSP00000499826 UniProtKB/TrEMBL
  ENSP00000499885 UniProtKB/TrEMBL
  ENSP00000500160 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000356962 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000368087 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000640973 UniProtKB/Swiss-Prot
  ENST00000672233 UniProtKB/TrEMBL
  ENST00000673234 UniProtKB/TrEMBL
  ENST00000673427 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000118520 GTEx
HGNC ID HGNC:663 ENTREZGENE
Human Proteome Map ARG1 Human Proteome Map
InterPro Arginase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ureohydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ureohydrolase_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ureohydrolase_Mn_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:383 UniProtKB/Swiss-Prot
NCBI Gene 383 ENTREZGENE
OMIM 207800 OMIM
  608313 OMIM
Pfam Arginase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24947 PharmGKB
PIRSF Arginase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS ARGINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ARGINASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARGINASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52768 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs rocF_arginase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A5F9ZGN6_HUMAN UniProtKB/TrEMBL
  A0A5F9ZGY6_HUMAN UniProtKB/TrEMBL
  A0A5F9ZH78_HUMAN UniProtKB/TrEMBL
  ARGI1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A6NEA0 UniProtKB/Swiss-Prot
  Q5JWT5 UniProtKB/Swiss-Prot
  Q5JWT6 UniProtKB/Swiss-Prot
  Q8TE72 UniProtKB/Swiss-Prot
  Q9BS50 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-07-30 ARG1  arginase 1    arginase, liver  Symbol and/or name change 5135510 APPROVED