KMO (kynurenine 3-monooxygenase) - Rat Genome Database

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Gene: KMO (kynurenine 3-monooxygenase) Homo sapiens
Analyze
Symbol: KMO
Name: kynurenine 3-monooxygenase
RGD ID: 737300
HGNC Page HGNC:6381
Description: Enables FAD binding activity; NAD(P)H oxidase H2O2-forming activity; and kynurenine 3-monooxygenase activity. Involved in NAD metabolic process; kynurenine metabolic process; and response to salt stress. Located in mitochondrion. Biomarker of schizophrenia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: dJ317G22.1; kynurenine 3-hydroxylase; kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381241,532,378 - 241,595,642 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1241,532,134 - 241,595,642 (+)EnsemblGRCh38hg38GRCh38
GRCh371241,695,678 - 241,758,944 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361239,762,330 - 239,825,566 (+)NCBINCBI36Build 36hg18NCBI36
Build 341238,021,747 - 238,084,984NCBI
Celera1214,950,683 - 215,013,947 (+)NCBICelera
Cytogenetic Map1q43NCBI
HuRef1212,153,669 - 212,217,265 (+)NCBIHuRef
CHM1_11242,968,145 - 243,031,623 (+)NCBICHM1_1
T2T-CHM13v2.01240,943,769 - 241,007,043 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-hydroxykynurenine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
5-methoxytryptamine  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphotericin B  (EXP)
antirheumatic drug  (EXP)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bosentan  (EXP)
buta-1,3-diene  (ISO)
calcitriol  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP,ISO)
cytarabine  (EXP)
dexamethasone  (EXP)
diallyl disulfide  (EXP)
dibenzofurans  (ISO)
dimethoate  (ISO)
dimethylarsinic acid  (ISO)
endosulfan  (ISO)
fipronil  (ISO)
flutamide  (ISO)
GW 4064  (ISO)
indometacin  (EXP,ISO)
kynurenic acid  (ISO)
kynurenine  (ISO)
Lasiocarpine  (EXP)
lidocaine  (ISO)
methylarsonic acid  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
Muraglitazar  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
nimesulide  (ISO)
nitrofen  (ISO)
nitroglycerin  (ISO)
O-methyleugenol  (EXP)
orphenadrine  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorohexanesulfonic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
PhIP  (ISO)
pirinixic acid  (ISO)
poly(I:C)  (EXP)
propiconazole  (ISO)
Ro 61-8048  (ISO)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
triphenyl phosphate  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Cloning and functional expression of human kynurenine 3-monooxygenase. Alberati-Giani D, etal., FEBS Lett 1997 Jun 30;410(2-3):407-12.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. The kynurenine pathway and neurodegenerative disease. Maddison DC and Giorgini F, Semin Cell Dev Biol. 2015 Apr;40:134-41. doi: 10.1016/j.semcdb.2015.03.002. Epub 2015 Mar 12.
4. Kynurenine-3-monooxygenase inhibition prevents multiple organ failure in rodent models of acute pancreatitis. Mole DJ, etal., Nat Med. 2016 Feb;22(2):202-9. doi: 10.1038/nm.4020. Epub 2016 Jan 11.
5. Enzymatic studies on tryptophan metabolism disorder in rats chronically exposed to carbon disulfide. Okayama A, etal., Toxicol Appl Pharmacol. 1988 Jul;94(3):356-61.
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. Pharmacological kynurenine 3-monooxygenase enzyme inhibition significantly reduces neuropathic pain in a rat model. Rojewska E, etal., Neuropharmacology. 2016 Mar;102:80-91. doi: 10.1016/j.neuropharm.2015.10.040. Epub 2015 Oct 31.
11. The inhibition of the kynurenine pathway prevents behavioral disturbances and oxidative stress in the brain of adult rats subjected to an animal model of schizophrenia. Réus GZ, etal., Prog Neuropsychopharmacol Biol Psychiatry. 2018 Feb 2;81:55-63. doi: 10.1016/j.pnpbp.2017.10.009. Epub 2017 Oct 13.
12. Impaired kynurenine pathway metabolism in the prefrontal cortex of individuals with schizophrenia. Sathyasaikumar KV, etal., Schizophr Bull. 2011 Nov;37(6):1147-56. doi: 10.1093/schbul/sbq112. Epub 2010 Oct 29.
13. Kynurenine-3-monooxygenase: a review of structure, mechanism, and inhibitors. Smith JR, etal., Drug Discov Today. 2016 Feb;21(2):315-24. doi: 10.1016/j.drudis.2015.11.001. Epub 2015 Nov 14.
14. Kynurenine metabolism in vitamin-B-6-deficient rat liver after tryptophan injection. Takeuchi F and Shibata Y, Biochem J. 1984 Jun 15;220(3):693-9.
15. Development of a Series of Kynurenine 3-Monooxygenase Inhibitors Leading to a Clinical Candidate for the Treatment of Acute Pancreatitis. Walker AL, etal., J Med Chem. 2017 Apr 27;60(8):3383-3404. doi: 10.1021/acs.jmedchem.7b00055. Epub 2017 Apr 11.
16. Regulation of the kynurenine metabolism pathway by Xiaoyao San and the underlying effect in the hippocampus of the depressed rat. Wang J, etal., J Ethnopharmacol. 2018 Mar 25;214:13-21. doi: 10.1016/j.jep.2017.11.037. Epub 2017 Dec 5.
Additional References at PubMed
PMID:10672018   PMID:11401433   PMID:12402501   PMID:12477932   PMID:14704851   PMID:15342556   PMID:15950064   PMID:16344560   PMID:16710414   PMID:16716206   PMID:19626040   PMID:21030213  
PMID:21693093   PMID:21727251   PMID:21873635   PMID:23251661   PMID:23376485   PMID:23459468   PMID:23575632   PMID:24316190   PMID:25464917   PMID:25715464   PMID:26099564   PMID:27020856  
PMID:27077813   PMID:27503909   PMID:28139632   PMID:28319697   PMID:28514442   PMID:29208702   PMID:29429898   PMID:29961565   PMID:32268268   PMID:32390008   PMID:32814053   PMID:33170836  
PMID:33961781   PMID:34440798   PMID:34800366   PMID:35011505   PMID:36774506   PMID:38040995   PMID:38497113   PMID:39026250  


Genomics

Comparative Map Data
KMO
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381241,532,378 - 241,595,642 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1241,532,134 - 241,595,642 (+)EnsemblGRCh38hg38GRCh38
GRCh371241,695,678 - 241,758,944 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361239,762,330 - 239,825,566 (+)NCBINCBI36Build 36hg18NCBI36
Build 341238,021,747 - 238,084,984NCBI
Celera1214,950,683 - 215,013,947 (+)NCBICelera
Cytogenetic Map1q43NCBI
HuRef1212,153,669 - 212,217,265 (+)NCBIHuRef
CHM1_11242,968,145 - 243,031,623 (+)NCBICHM1_1
T2T-CHM13v2.01240,943,769 - 241,007,043 (+)NCBIT2T-CHM13v2.0
Kmo
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391175,459,759 - 175,488,419 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1175,447,947 - 175,489,682 (+)EnsemblGRCm39 Ensembl
GRCm381175,632,193 - 175,660,853 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1175,620,381 - 175,662,116 (+)EnsemblGRCm38mm10GRCm38
MGSCv371177,562,324 - 177,590,984 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361177,468,868 - 177,497,528 (+)NCBIMGSCv36mm8
Celera1182,717,886 - 182,746,514 (+)NCBICelera
Cytogenetic Map1H3NCBI
cM Map181.6NCBI
Kmo
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81390,089,340 - 90,121,108 (+)NCBIGRCr8
mRatBN7.21387,557,080 - 87,589,334 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1387,557,286 - 87,588,881 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1390,057,159 - 90,088,772 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01391,457,419 - 91,489,032 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01388,636,585 - 88,668,179 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01393,684,324 - 93,715,378 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1393,684,437 - 93,716,227 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01398,149,340 - 98,180,255 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41391,363,517 - 91,394,174 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11391,552,400 - 91,583,055 (+)NCBI
Celera1387,155,915 - 87,185,730 (+)NCBICelera
Cytogenetic Map13q24NCBI
Kmo
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540610,493,379 - 10,527,201 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540610,496,102 - 10,527,181 (-)NCBIChiLan1.0ChiLan1.0
KMO
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v217,552,637 - 7,615,066 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan117,775,244 - 7,838,816 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01217,094,037 - 217,157,827 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11222,075,577 - 222,138,866 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1222,075,268 - 222,138,866 (+)Ensemblpanpan1.1panPan2
KMO
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1732,941,487 - 32,994,541 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl732,941,487 - 32,994,541 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha732,419,026 - 32,472,013 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0732,767,900 - 32,821,021 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl732,767,900 - 32,821,021 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1732,602,997 - 32,656,010 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0732,627,134 - 32,680,135 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0732,875,278 - 32,928,138 (+)NCBIUU_Cfam_GSD_1.0
Kmo
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934445,818,797 - 45,870,212 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365268,877,434 - 8,919,548 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365268,877,085 - 8,928,280 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KMO
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1012,434,769 - 12,490,409 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11012,442,877 - 12,489,417 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21014,879,142 - 14,937,353 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KMO
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12578,611,194 - 78,670,314 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2578,628,757 - 78,670,181 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605580,745,055 - 80,803,000 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kmo
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477111,899,624 - 11,942,806 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477111,900,020 - 11,942,943 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KMO
29 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q43(chr1:239631841-242609012)x3 copy number gain See cases [RCV000051587] Chr1:239631841..242609012 [GRCh38]
Chr1:239795141..242772314 [GRCh37]
Chr1:237861764..240838937 [NCBI36]
Chr1:1q43		 uncertain significance
GRCh38/hg38 1q43(chr1:240553438-242475553)x3 copy number gain See cases [RCV000051588] Chr1:240553438..242475553 [GRCh38]
Chr1:240716738..242638855 [GRCh37]
Chr1:238783361..240705478 [NCBI36]
Chr1:1q43		 uncertain significance
GRCh38/hg38 1q43(chr1:241358731-241676967)x3 copy number gain See cases [RCV000051589] Chr1:241358731..241676967 [GRCh38]
Chr1:241522031..241840269 [GRCh37]
Chr1:239588654..239906892 [NCBI36]
Chr1:1q43		 uncertain significance
GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1 copy number loss See cases [RCV000051082] Chr1:230106271..243677283 [GRCh38]
Chr1:230242018..243840585 [GRCh37]
Chr1:228308641..241907208 [NCBI36]
Chr1:1q42.13-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.3-44(chr1:236237049-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|See cases [RCV000051883] Chr1:236237049..248918469 [GRCh38]
Chr1:236400349..249212668 [GRCh37]
Chr1:234466972..247179291 [NCBI36]
Chr1:1q42.3-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:239657468-248918610)x3 copy number gain See cases [RCV000051886] Chr1:239657468..248918610 [GRCh38]
Chr1:239820768..249212809 [GRCh37]
Chr1:237887391..247179432 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3 copy number gain See cases [RCV000051888] Chr1:240244444..248891309 [GRCh38]
Chr1:240407744..249185508 [GRCh37]
Chr1:238474367..247152131 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q42.2-44(chr1:232097468-248918610)x1 copy number loss See cases [RCV000053985] Chr1:232097468..248918610 [GRCh38]
Chr1:232233214..249212809 [GRCh37]
Chr1:230299837..247179432 [NCBI36]
Chr1:1q42.2-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:237041745-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|See cases [RCV000053989] Chr1:237041745..248918469 [GRCh38]
Chr1:237205045..249212668 [GRCh37]
Chr1:235271668..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1 copy number loss See cases [RCV000053990] Chr1:237906379..244022201 [GRCh38]
Chr1:238069679..244185503 [GRCh37]
Chr1:236136302..242252126 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:238061020-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|See cases [RCV000053991] Chr1:238061020..248918469 [GRCh38]
Chr1:238224320..249212668 [GRCh37]
Chr1:236290943..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:239496961-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|See cases [RCV000053993] Chr1:239496961..248918469 [GRCh38]
Chr1:239660261..249212668 [GRCh37]
Chr1:237726884..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1 copy number loss See cases [RCV000054023] Chr1:239558430..248918469 [GRCh38]
Chr1:239721730..249212668 [GRCh37]
Chr1:237788353..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1 copy number loss See cases [RCV000054024] Chr1:239629868..248924593 [GRCh38]
Chr1:239793168..249218792 [GRCh37]
Chr1:237859791..247185415 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1 copy number loss See cases [RCV000054025] Chr1:241047422..248924593 [GRCh38]
Chr1:241210722..249218792 [GRCh37]
Chr1:239277345..247185415 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1 copy number loss See cases [RCV000054026] Chr1:241459440..247704671 [GRCh38]
Chr1:241622740..247867973 [GRCh37]
Chr1:239689363..245934596 [NCBI36]
Chr1:1q43-44		 pathogenic
NM_014322.2(OPN3):c.1198C>T (p.Arg400Cys) single nucleotide variant Malignant melanoma [RCV000064611] Chr1:241594439 [GRCh38]
Chr1:241757741 [GRCh37]
Chr1:239824364 [NCBI36]
Chr1:1q43		 not provided
NM_003679.4(KMO):c.958-6412A>G single nucleotide variant Lung cancer [RCV000090702] Chr1:241580267 [GRCh38]
Chr1:241743569 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1 copy number loss See cases [RCV000134751] Chr1:238753749..248918467 [GRCh38]
Chr1:238917049..249212666 [GRCh37]
Chr1:236983672..247179289 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1 copy number loss See cases [RCV000134172] Chr1:238351121..248918469 [GRCh38]
Chr1:238514421..249212668 [GRCh37]
Chr1:236581044..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1 copy number loss See cases [RCV000137554] Chr1:236556082..248918469 [GRCh38]
Chr1:236719382..249212668 [GRCh37]
Chr1:234786005..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1 copy number loss See cases [RCV000137260] Chr1:240465122..248918469 [GRCh38]
Chr1:240628422..249212668 [GRCh37]
Chr1:238695045..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1 copy number loss See cases [RCV000140039] Chr1:238033575..248924534 [GRCh38]
Chr1:238196875..249218733 [GRCh37]
Chr1:236263498..247185356 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43(chr1:239288025-242458053)x1 copy number loss See cases [RCV000141690] Chr1:239288025..242458053 [GRCh38]
Chr1:239451325..242621355 [GRCh37]
Chr1:237517948..240687978 [NCBI36]
Chr1:1q43		 pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1 copy number loss See cases [RCV000142518] Chr1:237643281..248918469 [GRCh38]
Chr1:237806581..249212668 [GRCh37]
Chr1:235873204..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1 copy number loss See cases [RCV000143374] Chr1:238192880..248930485 [GRCh38]
Chr1:238356180..249224684 [GRCh37]
Chr1:236422803..247191307 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3 copy number gain See cases [RCV000240034] Chr1:234050864..249213059 [GRCh37]
Chr1:1q42.2-44		 pathogenic
GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1 copy number loss See cases [RCV002292708] Chr1:233012994..249206918 [GRCh37]
Chr1:1q42.2-44		 pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q42.3-44(chr1:236515525-249224684)x3 copy number gain See cases [RCV000449458] Chr1:236515525..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:237233879-249206548)x1 copy number loss See cases [RCV000447669] Chr1:237233879..249206548 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:239781260-249224684)x3 copy number gain See cases [RCV000447584] Chr1:239781260..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q42.3-44(chr1:235374095-249224684)x1 copy number loss See cases [RCV000447426] Chr1:235374095..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:241094652-246670839)x1 copy number loss See cases [RCV000446261] Chr1:241094652..246670839 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3 copy number gain See cases [RCV000447654] Chr1:231670870..249213000 [GRCh37]
Chr1:1q42.2-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:241601964-249224684)x1 copy number loss See cases [RCV000448028] Chr1:241601964..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:240620284-247690417)x1 copy number loss See cases [RCV000512075] Chr1:240620284..247690417 [GRCh37]
Chr1:1q43-44		 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
GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1 copy number loss See cases [RCV000510546] Chr1:235797384..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44		 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 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44		 pathogenic
GRCh37/hg19 1q43(chr1:240958055-243698867)x3 copy number gain not provided [RCV000684715] Chr1:240958055..243698867 [GRCh37]
Chr1:1q43		 likely pathogenic
GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1 copy number loss not provided [RCV000684716] Chr1:241051170..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
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 1q42.2-44(chr1:232232335-249218992)x3 copy number gain not provided [RCV000749394] Chr1:232232335..249218992 [GRCh37]
Chr1:1q42.2-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:236617216-244515378)x1 copy number loss not provided [RCV000749402] Chr1:236617216..244515378 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q43(chr1:241646582-241711701)x3 copy number gain not provided [RCV000749412] Chr1:241646582..241711701 [GRCh37]
Chr1:1q43		 benign
NM_003679.5(KMO):c.786G>A (p.Pro262=) single nucleotide variant not provided [RCV000951054] Chr1:241566589 [GRCh38]
Chr1:241729889 [GRCh37]
Chr1:1q43		 benign
NC_000001.10:g.(?_241661128)_(242034263_?)dup duplication Fumarase deficiency [RCV001033301] Chr1:241661128..242034263 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_241661128)_(242034263_?)del deletion Fumarase deficiency [RCV001032378] Chr1:241661128..242034263 [GRCh37]
Chr1:1q43		 pathogenic
NC_000001.10:g.(?_241661108)_(242431558_?)del deletion Fumarase deficiency [RCV001032255] Chr1:241661108..242431558 [GRCh37]
Chr1:1q43		 pathogenic
NM_003679.5(KMO):c.785C>T (p.Pro262Leu) single nucleotide variant not provided [RCV000920875] Chr1:241566588 [GRCh38]
Chr1:241729888 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3 copy number gain not provided [RCV000849904] Chr1:238669293..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787399] Chr1:238817623..244138230 [GRCh37]
Chr1:1q43-44		 likely pathogenic
GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3 copy number gain not provided [RCV000846184] Chr1:235582580..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
GRCh37/hg19 1q43(chr1:241499877-241885359)x3 copy number gain not provided [RCV000848301] Chr1:241499877..241885359 [GRCh37]
Chr1:1q43		 uncertain significance
Single allele deletion Hereditary leiomyomatosis and renal cell cancer [RCV000850150] Chr1:237244834..242310908 [GRCh37]
Chr1:1q43		 pathogenic
GRCh37/hg19 1q43(chr1:241661303-241752434)x3 copy number gain not provided [RCV000846197] Chr1:241661303..241752434 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:241106058-242088336)x3 copy number gain not provided [RCV000847311] Chr1:241106058..242088336 [GRCh37]
Chr1:1q43		 uncertain significance
NM_003679.5(KMO):c.598C>T (p.Pro200Ser) single nucleotide variant not provided [RCV000894979] Chr1:241562315 [GRCh38]
Chr1:241725615 [GRCh37]
Chr1:1q43		 benign
NM_003679.5(KMO):c.957+9T>A single nucleotide variant not provided [RCV000953235] Chr1:241568656 [GRCh38]
Chr1:241731956 [GRCh37]
Chr1:1q43		 benign
GRCh37/hg19 1q43(chr1:241680265-241929583)x3 copy number gain not provided [RCV001005200] Chr1:241680265..241929583 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
GRCh37/hg19 1q43(chr1:241496526-241885359)x3 copy number gain not provided [RCV001259121] Chr1:241496526..241885359 [GRCh37]
Chr1:1q43		 likely benign
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
GRCh37/hg19 1q43(chr1:240857677-243316822)x3 copy number gain Autism [RCV002284315] Chr1:240857677..243316822 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43-44(chr1:240554955-247342593) copy number loss Corpus callosum, agenesis of [RCV001352645] Chr1:240554955..247342593 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q43(chr1:240857677-243316822)x3 copy number gain not provided [RCV001829254] Chr1:240857677..243316822 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:241180373-242090901) copy number gain not specified [RCV002052989] Chr1:241180373..242090901 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_241661128)_(245027609_?)dup duplication Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV004584128] Chr1:241661128..245027609 [GRCh37]
Chr1:1q43-44		 uncertain significance
NC_000001.10:g.(?_241661128)_(244218672_?)del deletion not provided [RCV003114057] Chr1:241661128..244218672 [GRCh37]
Chr1:1q43-44		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1 copy number loss not provided [RCV002474585] Chr1:232732121..243338216 [GRCh37]
Chr1:1q42.2-43		 pathogenic
GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1 copy number loss not provided [RCV002474504] Chr1:239910960..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
NM_003679.5(KMO):c.1211C>G (p.Ser404Cys) single nucleotide variant not specified [RCV004114561] Chr1:241590214 [GRCh38]
Chr1:241753516 [GRCh37]
Chr1:1q43		 uncertain significance
NM_003679.5(KMO):c.445C>G (p.Leu149Val) single nucleotide variant not specified [RCV004149453] Chr1:241560748 [GRCh38]
Chr1:241724048 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:241094653-242087176)x3 copy number gain not provided [RCV002475661] Chr1:241094653..242087176 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
NM_003679.5(KMO):c.40A>G (p.Ile14Val) single nucleotide variant not specified [RCV004189421] Chr1:241532484 [GRCh38]
Chr1:241695784 [GRCh37]
Chr1:1q43		 uncertain significance
NM_003679.5(KMO):c.1331A>G (p.Tyr444Cys) single nucleotide variant not specified [RCV004124189] Chr1:241592023 [GRCh38]
Chr1:241755325 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43		 not provided
NM_003679.5(KMO):c.1238A>G (p.Gln413Arg) single nucleotide variant not specified [RCV004088473] Chr1:241590241 [GRCh38]
Chr1:241753543 [GRCh37]
Chr1:1q43		 uncertain significance
NM_003679.5(KMO):c.932C>T (p.Pro311Leu) single nucleotide variant not specified [RCV004218454] Chr1:241568622 [GRCh38]
Chr1:241731922 [GRCh37]
Chr1:1q43		 uncertain significance
NM_003679.5(KMO):c.1390C>T (p.Arg464Trp) single nucleotide variant not specified [RCV004261382] Chr1:241592082 [GRCh38]
Chr1:241755384 [GRCh37]
Chr1:1q43		 likely benign
GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003327725] Chr1:235215476..247005888 [GRCh38]
Chr1:1q42.3-44		 pathogenic
GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1 copy number loss Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV003327728] Chr1:230178121..243646135 [GRCh38]
Chr1:1q42.13-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003333897] Chr1:239907336..248919110 [GRCh38]
Chr1:1q43-44		 pathogenic
NM_003679.5(KMO):c.583_601del (p.Met195fs) deletion not provided [RCV003331476] Chr1:241562298..241562316 [GRCh38]
Chr1:241725598..241725616 [GRCh37]
Chr1:1q43		 uncertain significance
NM_003679.5(KMO):c.862G>A (p.Val288Ile) single nucleotide variant not specified [RCV004357035] Chr1:241568552 [GRCh38]
Chr1:241731852 [GRCh37]
Chr1:1q43		 uncertain significance
NM_003679.5(KMO):c.1321C>T (p.Leu441Phe) single nucleotide variant not specified [RCV004345020] Chr1:241592013 [GRCh38]
Chr1:241755315 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3 copy number gain not provided [RCV003484052] Chr1:229373250..249206595 [GRCh37]
Chr1:1q42.13-44		 pathogenic
GRCh37/hg19 1q43(chr1:240939595-241740770)x3 copy number gain not provided [RCV003484053] Chr1:240939595..241740770 [GRCh37]
Chr1:1q43		 uncertain significance
NM_014322.3(OPN3):c.950G>A (p.Arg317Gln) single nucleotide variant not provided [RCV003415079] Chr1:241594687 [GRCh38]
Chr1:241757989 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q43(chr1:239786185-242208644)x1 copy number loss not specified [RCV003986406] Chr1:239786185..242208644 [GRCh37]
Chr1:1q43		 pathogenic
GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3 copy number gain not specified [RCV003986862] Chr1:238681812..249224684 [GRCh37]
Chr1:1q43-44		 likely pathogenic
NM_003679.5(KMO):c.701C>T (p.Thr234Ile) single nucleotide variant KMO-related disorder [RCV003911736] Chr1:241566504 [GRCh38]
Chr1:241729804 [GRCh37]
Chr1:1q43		 likely benign
NM_003679.5(KMO):c.1094T>C (p.Ile365Thr) single nucleotide variant not specified [RCV004409746] Chr1:241588826 [GRCh38]
Chr1:241752128 [GRCh37]
Chr1:1q43		 uncertain significance
NM_003679.5(KMO):c.119G>C (p.Arg40Thr) single nucleotide variant not specified [RCV004409747] Chr1:241548893 [GRCh38]
Chr1:241712193 [GRCh37]
Chr1:1q43		 uncertain significance
NM_003679.5(KMO):c.1271A>G (p.Lys424Arg) single nucleotide variant not specified [RCV004409748] Chr1:241591963 [GRCh38]
Chr1:241755265 [GRCh37]
Chr1:1q43		 uncertain significance
NM_003679.5(KMO):c.14T>C (p.Val5Ala) single nucleotide variant not specified [RCV004409749] Chr1:241532458 [GRCh38]
Chr1:241695758 [GRCh37]
Chr1:1q43		 uncertain significance
NM_003679.5(KMO):c.616T>C (p.Tyr206His) single nucleotide variant not specified [RCV004409751] Chr1:241564987 [GRCh38]
Chr1:241728287 [GRCh37]
Chr1:1q43		 uncertain significance
NM_003679.5(KMO):c.635A>G (p.Tyr212Cys) single nucleotide variant not specified [RCV004409752] Chr1:241565006 [GRCh38]
Chr1:241728306 [GRCh37]
Chr1:1q43		 uncertain significance
NM_003679.5(KMO):c.712T>C (p.Phe238Leu) single nucleotide variant not specified [RCV004409753] Chr1:241566515 [GRCh38]
Chr1:241729815 [GRCh37]
Chr1:1q43		 uncertain significance
NM_003679.5(KMO):c.898G>C (p.Val300Leu) single nucleotide variant not specified [RCV004409754] Chr1:241568588 [GRCh38]
Chr1:241731888 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_241661128)_(245027609_?)del deletion not provided [RCV004579203] Chr1:241661128..245027609 [GRCh37]
Chr1:1q43-44		 uncertain significance
NM_003679.5(KMO):c.490G>T (p.Val164Leu) single nucleotide variant not specified [RCV004644242] Chr1:241562207 [GRCh38]
Chr1:241725507 [GRCh37]
Chr1:1q43		 uncertain significance
NM_003679.5(KMO):c.1078T>C (p.Ser360Pro) single nucleotide variant not specified [RCV004644243] Chr1:241588810 [GRCh38]
Chr1:241752112 [GRCh37]
Chr1:1q43		 uncertain significance
NM_003679.5(KMO):c.760G>A (p.Val254Ile) single nucleotide variant not specified [RCV004631601] Chr1:241566563 [GRCh38]
Chr1:241729863 [GRCh37]
Chr1:1q43		 likely benign
NM_014322.3(OPN3):c.1051G>C (p.Val351Leu) single nucleotide variant not specified [RCV004646163] Chr1:241594586 [GRCh38]
Chr1:241757888 [GRCh37]
Chr1:1q43		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3202
Count of miRNA genes:1055
Interacting mature miRNAs:1250
Transcripts:ENST00000366555, ENST00000366557, ENST00000366558, ENST00000366559, ENST00000431245, ENST00000477907, ENST00000480967, ENST00000481087, ENST00000484229, ENST00000484628
Prediction methods: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
407065987GWAS714963_Hkynurenate measurement QTL GWAS714963 (human)6e-49kynurenate measurement1241550102241550103Human
407065986GWAS714962_Hkynurenate measurement QTL GWAS714962 (human)3e-53kynurenate measurement1241550102241550103Human
407067138GWAS716114_HN-acetylkynurenine (2) measurement QTL GWAS716114 (human)1e-31N-acetylkynurenine (2) measurement1241550102241550103Human
407268292GWAS917268_Hkynurenine measurement QTL GWAS917268 (human)8e-27kynurenine measurement1241550102241550103Human
407124929GWAS773905_Hurinary metabolite measurement QTL GWAS773905 (human)0.000001urinary metabolite measurement1241592265241592266Human
407065989GWAS714965_Hkynurenine measurement QTL GWAS714965 (human)9e-36kynurenine measurement1241550102241550103Human
407334145GWAS983121_Hkynurenate measurement QTL GWAS983121 (human)4e-83kynurenate measurement1241550102241550103Human
407097802GWAS746778_Hkynurenate measurement QTL GWAS746778 (human)1e-85kynurenate measurement1241550102241550103Human
407064265GWAS713241_HN-acetylkynurenine (2) measurement QTL GWAS713241 (human)1e-14N-acetylkynurenine (2) measurement1241550102241550103Human
407065800GWAS714776_HX-15503 measurement QTL GWAS714776 (human)2e-25X-15503 measurement1241550102241550103Human
406906512GWAS555488_Hquinolinate measurement QTL GWAS555488 (human)1e-19quinolinate measurement1241550102241550103Human
407074515GWAS723491_Hkynurenate measurement QTL GWAS723491 (human)2e-193kynurenate measurement1241550102241550103Human
407314838GWAS963814_HX-15503 measurement QTL GWAS963814 (human)1e-32X-15503 measurement1241550102241550103Human
407075024GWAS724000_Hkynurenine measurement QTL GWAS724000 (human)9e-27kynurenine measurement1241550102241550103Human
407024859GWAS673835_HX-15503 measurement QTL GWAS673835 (human)1e-38X-15503 measurement1241550102241550103Human
407025048GWAS674024_HN-acetylkynurenine (2) measurement QTL GWAS674024 (human)4e-17N-acetylkynurenine (2) measurement1241550102241550103Human
406920029GWAS569005_Hkynurenate measurement QTL GWAS569005 (human)6e-82kynurenate measurement1241550102241550103Human
407096927GWAS745903_Hlevel of kynurenic acid in blood QTL GWAS745903 (human)8e-83level of kynurenic acid in blood1241550102241550103Human
406920030GWAS569006_Hkynurenate measurement QTL GWAS569006 (human)4e-28kynurenate measurement1241560315241560316Human
407094300GWAS743276_Hquinolinate measurement QTL GWAS743276 (human)8e-18quinolinate measurement1241550102241550103Human
407061538GWAS710514_HN-acetylkynurenine (2) measurement QTL GWAS710514 (human)3e-18N-acetylkynurenine (2) measurement1241550102241550103Human
407095201GWAS744177_Hquinolinate measurement QTL GWAS744177 (human)3e-33quinolinate measurement1241550102241550103Human
407154156GWAS803132_Hurinary metabolite measurement QTL GWAS803132 (human)7e-18urinary metabolite measurement1241550102241550103Human
407220845GWAS869821_Hserum metabolite measurement QTL GWAS869821 (human)2e-36serum metabolite measurement1241550102241550103Human
407024876GWAS673852_Hkynurenine measurement QTL GWAS673852 (human)3e-14kynurenine measurement1241550102241550103Human
407320745GWAS969721_Hquinolinate measurement QTL GWAS969721 (human)1e-16quinolinate measurement1241550102241550103Human
407191734GWAS840710_Hkynurenine measurement QTL GWAS840710 (human)0.000008kynurenine measurement1241550102241550103Human
406973303GWAS622279_Hdaytime rest measurement QTL GWAS622279 (human)0.000004daytime rest measurement1241540257241540258Human
407094457GWAS743433_HX-15503 measurement QTL GWAS743433 (human)2e-81X-15503 measurement1241550102241550103Human

Markers in Region
D1S547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,755,937 - 241,756,221UniSTSGRCh37
Build 361239,822,560 - 239,822,844RGDNCBI36
Celera1215,010,922 - 215,011,224RGD
Cytogenetic Map1q42-q44UniSTS
HuRef1212,214,235 - 212,214,537UniSTS
Marshfield Genetic Map1267.51UniSTS
Marshfield Genetic Map1267.51RGD
deCODE Assembly Map1259.16UniSTS
Whitehead-RH Map1932.0UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11965.8UniSTS
A007K45  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,755,297 - 241,755,561UniSTSGRCh37
Build 361239,821,920 - 239,822,184RGDNCBI36
Celera1215,010,282 - 215,010,546RGD
Cytogenetic Map1q42-q44UniSTS
HuRef1212,213,595 - 212,213,859UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
NCBI RH Map11966.1UniSTS
SHGC-76600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,756,984 - 241,757,171UniSTSGRCh37
Build 361239,823,607 - 239,823,794RGDNCBI36
Celera1215,011,987 - 215,012,174RGD
Cytogenetic Map1q43UniSTS
Cytogenetic Map1q42-q44UniSTS
HuRef1212,215,300 - 212,215,487UniSTS
TNG Radiation Hybrid Map1122254.0UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
NCBI RH Map11965.8UniSTS
D1S3521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,728,694 - 241,728,842UniSTSGRCh37
Build 361239,795,317 - 239,795,465RGDNCBI36
Celera1214,983,683 - 214,983,831RGD
Cytogenetic Map1q42-q44UniSTS
HuRef1212,187,000 - 212,187,148UniSTS
TNG Radiation Hybrid Map1122208.0UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
NCBI RH Map11965.8UniSTS
SHGC-105324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,696,458 - 241,696,746UniSTSGRCh37
Build 361239,763,081 - 239,763,369RGDNCBI36
Celera1214,951,461 - 214,951,749RGD
Cytogenetic Map1q42-q44UniSTS
HuRef1212,154,693 - 212,154,981UniSTS
TNG Radiation Hybrid Map1122196.0UniSTS
SHGC-34194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,755,440 - 241,755,566UniSTSGRCh37
Build 361239,822,063 - 239,822,189RGDNCBI36
Celera1215,010,425 - 215,010,551RGD
Cytogenetic Map1q42-q44UniSTS
HuRef1212,213,738 - 212,213,864UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
GeneMap99-GB4 RH Map1753.76UniSTS
Whitehead-RH Map1922.8UniSTS
GeneMap99-G3 RH Map19354.0UniSTS
SHGC-58108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,751,262 - 241,751,428UniSTSGRCh37
Build 361239,817,885 - 239,818,051RGDNCBI36
Celera1215,006,251 - 215,006,417RGD
Cytogenetic Map1q42-q44UniSTS
HuRef1212,209,570 - 212,209,736UniSTS
TNG Radiation Hybrid Map1122246.0UniSTS
SHGC-76603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,756,959 - 241,757,182UniSTSGRCh37
Build 361239,823,582 - 239,823,805RGDNCBI36
Celera1215,011,962 - 215,012,185RGD
Cytogenetic Map1q43UniSTS
Cytogenetic Map1q42-q44UniSTS
HuRef1212,215,275 - 212,215,498UniSTS
TNG Radiation Hybrid Map1122254.0UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
D1S3591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,756,534 - 241,756,668UniSTSGRCh37
Build 361239,823,157 - 239,823,291RGDNCBI36
Celera1215,011,537 - 215,011,671RGD
Cytogenetic Map1q43UniSTS
Cytogenetic Map1q42-q44UniSTS
HuRef1212,214,850 - 212,214,984UniSTS
TNG Radiation Hybrid Map1122254.0UniSTS
GeneMap99-GB4 RH Map1752.34UniSTS
NCBI RH Map11969.9UniSTS
SHGC-76597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,758,779 - 241,758,908UniSTSGRCh37
Build 361239,825,402 - 239,825,531RGDNCBI36
Celera1215,013,782 - 215,013,911RGD
Cytogenetic Map1q43UniSTS
Cytogenetic Map1q42-q44UniSTS
HuRef1212,217,095 - 212,217,224UniSTS
TNG Radiation Hybrid Map1122242.0UniSTS
GeneMap99-GB4 RH Map1750.44UniSTS
Whitehead-RH Map1921.2UniSTS
NCBI RH Map11965.8UniSTS
KMO__6342  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,758,184 - 241,759,045UniSTSGRCh37
Build 361239,824,807 - 239,825,668RGDNCBI36
Celera1215,013,187 - 215,014,048RGD
HuRef1212,216,500 - 212,217,361UniSTS


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
renal system
reproductive system
respiratory system
sensory system
1199 2364 2453 2109 4730 1708 2264 4 615 1919 458 2150 6795 6259 46 3599 829 1684 1543 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001410944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF056032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI262990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU137977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP276365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB989076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB373228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FO393423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y13153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000366555   ⟹   ENSP00000355513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,568,635 - 241,593,459 (+)Ensembl
Ensembl Acc Id: ENST00000366557   ⟹   ENSP00000355515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,532,405 - 241,595,642 (+)Ensembl
Ensembl Acc Id: ENST00000366558   ⟹   ENSP00000355516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,532,134 - 241,592,288 (+)Ensembl
Ensembl Acc Id: ENST00000366559   ⟹   ENSP00000355517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,532,378 - 241,595,642 (+)Ensembl
Ensembl Acc Id: ENST00000431245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,562,053 - 241,586,736 (+)Ensembl
Ensembl Acc Id: ENST00000477907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,532,401 - 241,566,575 (+)Ensembl
Ensembl Acc Id: ENST00000480967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,532,369 - 241,562,283 (+)Ensembl
Ensembl Acc Id: ENST00000481087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,549,662 - 241,555,801 (+)Ensembl
Ensembl Acc Id: ENST00000484229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,532,379 - 241,550,087 (+)Ensembl
Ensembl Acc Id: ENST00000484628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,532,338 - 241,562,264 (+)Ensembl
RefSeq Acc Id: NM_001410944   ⟹   NP_001397873
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,532,378 - 241,595,642 (+)NCBI
T2T-CHM13v2.01240,943,769 - 241,007,043 (+)NCBI
RefSeq Acc Id: NM_003679   ⟹   NP_003670
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,532,378 - 241,595,642 (+)NCBI
GRCh371241,695,324 - 241,758,949 (+)NCBI
Build 361239,762,330 - 239,825,566 (+)NCBI Archive
Celera1214,950,683 - 215,013,947 (+)RGD
HuRef1212,153,669 - 212,217,265 (+)NCBI
CHM1_11242,968,145 - 243,031,623 (+)NCBI
T2T-CHM13v2.01240,943,769 - 241,007,043 (+)NCBI
Sequence:
RefSeq Acc Id: NP_003670   ⟸   NM_003679
- Peptide Label: isoform 1
- UniProtKB: Q5SY08 (UniProtKB/Swiss-Prot),   Q5SY07 (UniProtKB/Swiss-Prot),   A2A2V0 (UniProtKB/Swiss-Prot),   A2A2U9 (UniProtKB/Swiss-Prot),   A2A2U8 (UniProtKB/Swiss-Prot),   Q5SY09 (UniProtKB/Swiss-Prot),   O15229 (UniProtKB/Swiss-Prot),   A8K693 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000355517   ⟸   ENST00000366559
Ensembl Acc Id: ENSP00000355513   ⟸   ENST00000366555
Ensembl Acc Id: ENSP00000355515   ⟸   ENST00000366557
Ensembl Acc Id: ENSP00000355516   ⟸   ENST00000366558
RefSeq Acc Id: NP_001397873   ⟸   NM_001410944
- Peptide Label: isoform 2
Protein Domains
FAD-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15229-F1-model_v2 AlphaFold O15229 1-486 view protein structure

Promoters
RGD ID:6785906
Promoter ID:HG_KWN:8058
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000366557,   ENST00000366558,   NM_003679,   UC001HYY.2,   UC009XGO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361239,761,771 - 239,762,282 (+)MPROMDB
RGD ID:6859396
Promoter ID:EPDNEW_H2863
Type:initiation region
Name:KMO_1
Description:kynurenine 3-monooxygenase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2864  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,532,134 - 241,532,194EPDNEW
RGD ID:6859398
Promoter ID:EPDNEW_H2864
Type:multiple initiation site
Name:KMO_2
Description:kynurenine 3-monooxygenase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2863  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381241,532,379 - 241,532,439EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6381 AgrOrtholog
COSMIC KMO COSMIC
Ensembl Genes ENSG00000117009 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000366555.5 UniProtKB/TrEMBL
  ENST00000366557.8 UniProtKB/Swiss-Prot
  ENST00000366558 ENTREZGENE
  ENST00000366558.7 UniProtKB/Swiss-Prot
  ENST00000366559 ENTREZGENE
  ENST00000366559.9 UniProtKB/Swiss-Prot
Gene3D-CATH 3.50.50.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000117009 GTEx
HGNC ID HGNC:6381 ENTREZGENE
Human Proteome Map KMO Human Proteome Map
InterPro FAD-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD/NAD-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kynurenine_monooxygenase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8564 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8564 ENTREZGENE
OMIM 603538 OMIM
PANTHER KYNURENINE 3-MONOOXYGENASE UniProtKB/Swiss-Prot
  KYNURENINE 3-MONOOXYGENASE UniProtKB/Swiss-Prot
  KYNURENINE 3-MONOOXYGENASE UniProtKB/TrEMBL
  KYNURENINE 3-MONOOXYGENASE UniProtKB/TrEMBL
Pfam FAD_binding_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30172 PharmGKB
PRINTS RNGMNOXGNASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51905 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2A2U8 ENTREZGENE
  A2A2U9 ENTREZGENE
  A2A2V0 ENTREZGENE
  A8K693 ENTREZGENE, UniProtKB/TrEMBL
  H0Y320_HUMAN UniProtKB/TrEMBL
  KMO_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5SY07 ENTREZGENE
  Q5SY08 ENTREZGENE
  Q5SY09 ENTREZGENE
  Q9BS61_HUMAN UniProtKB/TrEMBL
UniProt Secondary A2A2U8 UniProtKB/Swiss-Prot
  A2A2U9 UniProtKB/Swiss-Prot
  A2A2V0 UniProtKB/Swiss-Prot
  Q5SY07 UniProtKB/Swiss-Prot
  Q5SY08 UniProtKB/Swiss-Prot
  Q5SY09 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-09 KMO  kynurenine 3-monooxygenase    kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)  Symbol and/or name change 5135510 APPROVED