MAOB (monoamine oxidase B) - Rat Genome Database

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Gene: MAOB (monoamine oxidase B) Homo sapiens
Analyze
Symbol: MAOB
Name: monoamine oxidase B
RGD ID: 732580
HGNC Page HGNC:6834
Description: Enables monoamine oxidase activity and primary amine oxidase activity. Involved in substantia nigra development. Located in mitochondrion. Implicated in Alzheimer's disease and Parkinson's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adrenalin oxidase; amine oxidase [flavin-containing] B; MAO, brain; MAO, platelet; MAO-B; MGC26382; monoamine oxidase type B; tyramine oxidase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X43,766,610 - 43,882,450 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX43,766,610 - 43,882,450 (-)EnsemblGRCh38hg38GRCh38
GRCh37X43,625,857 - 43,741,696 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X43,510,801 - 43,626,665 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X43,382,111 - 43,497,935NCBI
CeleraX47,765,631 - 47,881,481 (-)NCBICelera
Cytogenetic MapXp11.3NCBI
HuRefX41,355,388 - 41,470,732 (-)NCBIHuRef
CHM1_1X43,659,020 - 43,774,882 (-)NCBICHM1_1
T2T-CHM13v2.0X43,172,827 - 43,288,647 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(+)-schisandrin B  (ISO)
(-)-selegiline  (EXP,ISO)
(3,4-dihydroxyphenyl)acetic acid  (ISO)
(R)-noradrenaline  (ISO)
(S)-amphetamine  (ISO)
1,1-dichloroethene  (ISO)
1,2,3,4-tetrahydroisoquinoline  (EXP)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (EXP,ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-D  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-phenylethylamine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,4-Methylenedioxyamphetamine  (EXP)
3,4-methylenedioxymethamphetamine  (EXP,ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (ISO)
amitraz  (ISO)
ammonium chloride  (ISO)
amphetamine  (EXP)
Anetholtrithion  (ISO)
aripiprazole  (ISO)
baclofen  (EXP)
barbituric acid  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzyl benzoate  (EXP)
benzyl cinnamate  (EXP)
beta-carboline  (EXP)
bexarotene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
Brodifacoum  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
calcitriol  (EXP)
cannabidiol  (ISO)
cantharidin  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
chloroform  (ISO)
chlorogenic acid  (EXP)
cis-caffeic acid  (EXP)
clorgyline  (ISO)
clozapine  (ISO)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
Cuprizon  (ISO)
cyanocob(III)alamin  (EXP)
cyclosporin A  (EXP,ISO)
cyhalothrin  (ISO)
D-glucose  (ISO)
dexamethasone  (EXP,ISO)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dichlorvos  (ISO)
diclofenac  (EXP)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
diquat  (ISO)
diuron  (ISO)
dopamine  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
emodin  (ISO)
endosulfan  (ISO)
erythromycin estolate  (ISO)
ethanol  (ISO)
ethylparaben  (EXP)
fenofibrate  (ISO)
fenthion  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fructose  (ISO)
fucoxanthin  (EXP)
fulvestrant  (EXP)
geraniol  (ISO)
glafenine  (ISO)
glucose  (ISO)
glutathione  (EXP)
Heliotrine  (EXP)
heptachlor  (ISO)
homovanillic acid  (ISO)
hydrogen sulfide  (ISO)
indol-3-ylacetaldehyde  (EXP)
indometacin  (EXP,ISO)
kojic acid  (ISO)
kynuramine  (EXP)
linezolid  (EXP)
menadione  (EXP)
methamphetamine  (ISO)
methapyrilene  (ISO)
methotrexate  (EXP)
methylene blue  (EXP)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
monocrotophos  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nitroglycerin  (ISO)
nitroprusside  (ISO)
olanzapine  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
Paeonol  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
parathion  (ISO)
Pargyline  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phencyclidine  (ISO)
Phenelzine  (EXP)
phenobarbital  (EXP,ISO)
phenylephrine  (ISO)
phenylpropanolamine  (EXP,ISO)
PhIP  (ISO)
phlorizin  (ISO)
phosphamidon  (ISO)
pioglitazone  (EXP)
piperine  (ISO)
pirinixic acid  (ISO)
progesterone  (EXP,ISO)
quercetin  (EXP)
rasagiline  (EXP)
resveratrol  (ISO)
risperidone  (ISO)
rosmarinic acid  (EXP)
SB 431542  (EXP)
Senkirkine  (EXP)
serotonin  (EXP,ISO)
sertraline  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
simazine  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
sulindac  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
Tanshinone I  (EXP)
tauroursodeoxycholic acid  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
thiouracil  (ISO)
topotecan  (ISO)
trans-caffeic acid  (EXP)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (EXP)
tryptamine  (EXP)
undecane  (ISO)
uranium atom  (EXP)
urethane  (EXP)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP)
vorinostat  (EXP)
zonisamide  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
dendrite  (IEA,ISO)
mitochondrial envelope  (TAS)
mitochondrial outer membrane  (IEA,ISO,TAS)
mitochondrion  (HDA,IBA,IEA,ISS)
neuronal cell body  (IEA,ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Association of a polymorphism in intron 13 of the monoamine oxidase B gene with Parkinson disease. Costa P, etal., Am J Med Genet 1997 Apr 18;74(2):154-6.
2. Modification of L-DOPA pharmacological activity by MAO inhibitors. Finberg JP and Sader-Mazbar O, J Neural Transm. 2007;114(6):801-5. Epub 2007 Apr 10.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Brain gamma-aminobutyrate aminotransferase (GABA-T) and monoamine oxidase (MAO) in patients with Alzheimer's disease. Sherif F, etal., J Neural Transm Park Dis Dement Sect. 1992;4(3):227-40.
11. Metabolic changes in rat brain histaminergic neurons during subhepatic cholestasis. Zimatkin SM, etal., Neurosci Behav Physiol. 2008 Oct;38(8):807-10. Epub 2008 Sep 18.
Additional References at PubMed
PMID:1432104   PMID:2023912   PMID:3387449   PMID:3540317   PMID:4016087   PMID:4687789   PMID:6951409   PMID:7063850   PMID:7499273   PMID:8060341   PMID:8316221   PMID:8515265  
PMID:8602220   PMID:8613523   PMID:8665924   PMID:8889548   PMID:9045087   PMID:9596006   PMID:10653595   PMID:11049757   PMID:11171904   PMID:11295131   PMID:11396715   PMID:11753429  
PMID:11761322   PMID:11861643   PMID:11956220   PMID:12011284   PMID:12136060   PMID:12360111   PMID:12428723   PMID:12465073   PMID:12477932   PMID:12563176   PMID:12732844   PMID:12763335  
PMID:12777388   PMID:12815660   PMID:12815741   PMID:12825788   PMID:12855685   PMID:12913124   PMID:12963742   PMID:14659989   PMID:14697881   PMID:14743364   PMID:14962671   PMID:15024015  
PMID:15027868   PMID:15028609   PMID:15057517   PMID:15211623   PMID:15247489   PMID:15261699   PMID:15355491   PMID:15461973   PMID:15589121   PMID:15694196   PMID:15699372   PMID:15710600  
PMID:15753616   PMID:15772651   PMID:15862518   PMID:15921854   PMID:15955630   PMID:16129825   PMID:16344560   PMID:16366596   PMID:16427095   PMID:16484337   PMID:16610949   PMID:16674552  
PMID:16807522   PMID:17044053   PMID:17270484   PMID:17289152   PMID:17427196   PMID:17449559   PMID:17628790   PMID:17640790   PMID:17885758   PMID:17918234   PMID:17938636   PMID:18092818  
PMID:18205889   PMID:18270970   PMID:18327668   PMID:18405071   PMID:18430257   PMID:18553363   PMID:18832861   PMID:19053775   PMID:19058789   PMID:19086053   PMID:19156168   PMID:19221690  
PMID:19268543   PMID:19455600   PMID:19506579   PMID:19598235   PMID:19657584   PMID:19693267   PMID:19789505   PMID:19863190   PMID:19874574   PMID:19913121   PMID:19956754   PMID:20022119  
PMID:20127808   PMID:20461808   PMID:20479760   PMID:20485326   PMID:20493079   PMID:20589923   PMID:20603187   PMID:20628086   PMID:20648649   PMID:20734064   PMID:20833797   PMID:21075085  
PMID:21177257   PMID:21359973   PMID:21610556   PMID:21781348   PMID:21786798   PMID:21873635   PMID:21971000   PMID:21971001   PMID:21978362   PMID:21978760   PMID:21988832   PMID:22270014  
PMID:22414661   PMID:22926577   PMID:22974659   PMID:23054588   PMID:23093014   PMID:23319194   PMID:23376485   PMID:23474901   PMID:24210742   PMID:24252804   PMID:24630741   PMID:24658549  
PMID:24772965   PMID:25034874   PMID:25035107   PMID:25220264   PMID:25389533   PMID:25398695   PMID:25618115   PMID:25636089   PMID:25671411   PMID:25857233   PMID:26000819   PMID:26051160  
PMID:26546820   PMID:26689994   PMID:26851573   PMID:27112218   PMID:27341797   PMID:27381555   PMID:27421021   PMID:27821364   PMID:28108387   PMID:28514442   PMID:28577058   PMID:28685208  
PMID:28764767   PMID:28858992   PMID:28982350   PMID:29050386   PMID:29278785   PMID:29321361   PMID:29637670   PMID:30021884   PMID:30216543   PMID:30738894   PMID:30809547   PMID:30964996  
PMID:31275445   PMID:31391242   PMID:31743621   PMID:31771069   PMID:32094232   PMID:32296183   PMID:32316576   PMID:32598328   PMID:32814053   PMID:32859055   PMID:33203099   PMID:33212830  
PMID:33961781   PMID:34097937   PMID:34287249   PMID:34290084   PMID:34533445   PMID:34713936   PMID:35063084   PMID:35163835   PMID:35457272   PMID:35625663   PMID:35944360   PMID:35961947  
PMID:36215168   PMID:37238670   PMID:38335292   PMID:38520217  


Genomics

Comparative Map Data
MAOB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X43,766,610 - 43,882,450 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX43,766,610 - 43,882,450 (-)EnsemblGRCh38hg38GRCh38
GRCh37X43,625,857 - 43,741,696 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X43,510,801 - 43,626,665 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X43,382,111 - 43,497,935NCBI
CeleraX47,765,631 - 47,881,481 (-)NCBICelera
Cytogenetic MapXp11.3NCBI
HuRefX41,355,388 - 41,470,732 (-)NCBIHuRef
CHM1_1X43,659,020 - 43,774,882 (-)NCBICHM1_1
T2T-CHM13v2.0X43,172,827 - 43,288,647 (-)NCBIT2T-CHM13v2.0
Maob
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X16,575,520 - 16,683,605 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX16,575,521 - 16,683,605 (-)EnsemblGRCm39 Ensembl
GRCm38X16,709,281 - 16,817,366 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX16,709,282 - 16,817,366 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X16,286,407 - 16,394,492 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X15,866,241 - 15,974,323 (-)NCBIMGSCv36mm8
CeleraX14,324,831 - 14,433,074 (-)NCBICelera
Cytogenetic MapXA1.2NCBI
cM MapX11.88NCBI
Maob
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X8,490,405 - 8,594,065 (+)NCBIGRCr8
mRatBN7.2X5,907,327 - 6,010,996 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX5,907,266 - 6,011,003 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX5,962,563 - 6,066,216 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X9,438,380 - 9,542,028 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X5,758,453 - 5,862,143 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X6,430,694 - 6,533,520 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX6,430,594 - 6,533,534 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X7,249,779 - 7,352,270 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X17,553,529 - 17,657,852 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X17,606,846 - 17,711,170 (+)NCBI
CeleraX6,397,919 - 6,500,914 (+)NCBICelera
Cytogenetic MapXq11NCBI
Maob
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555164,328,476 - 4,472,593 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555164,328,286 - 4,473,419 (+)NCBIChiLan1.0ChiLan1.0
MAOB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X45,416,758 - 45,532,609 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X45,420,131 - 45,535,938 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X36,217,710 - 36,333,516 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X44,042,000 - 44,157,846 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX44,042,000 - 44,157,941 (-)Ensemblpanpan1.1panPan2
MAOB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X37,765,810 - 37,883,955 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX37,765,813 - 37,883,955 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX24,993,868 - 25,112,008 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X37,854,043 - 37,972,251 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX37,854,043 - 37,972,306 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X37,895,301 - 38,013,405 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X37,878,280 - 37,996,408 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X37,973,208 - 38,091,371 (-)NCBIUU_Cfam_GSD_1.0
Maob
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X30,066,432 - 30,229,771 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365029,907,180 - 10,014,773 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365029,907,181 - 10,014,756 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MAOB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX39,025,970 - 39,144,345 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X39,025,973 - 39,144,389 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X43,355,507 - 43,474,320 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MAOB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X40,936,789 - 41,054,547 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX40,936,711 - 41,054,641 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660766,156,035 - 6,274,102 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Maob
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476211,584,825 - 11,720,506 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476211,584,925 - 11,720,273 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MAOB
21 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1 copy number loss See cases [RCV000053088] ChrX:41434043..47880733 [GRCh38]
ChrX:41293296..47619970 [GRCh37]
ChrX:41178240..47625076 [NCBI36]
ChrX:Xp11.4-11.23		 pathogenic
GRCh38/hg38 Xp11.4-11.3(chrX:41823849-44240337)x1 copy number loss See cases [RCV000053092] ChrX:41823849..44240337 [GRCh38]
ChrX:41683102..44099583 [GRCh37]
ChrX:41568046..43984527 [NCBI36]
ChrX:Xp11.4-11.3		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1		 pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
NM_000898.4(MAOB):c.780G>A (p.Val260=) single nucleotide variant Malignant melanoma [RCV000073194] ChrX:43793567 [GRCh38]
ChrX:43652814 [GRCh37]
ChrX:43537758 [NCBI36]
ChrX:Xp11.3		 not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_43479884)_(46741003_?)del deletion Kabuki syndrome 2 [RCV000172943] ChrX:43479884..46741003 [GRCh37]
ChrX:Xp11.3-11.23		 likely pathogenic
NC_000023.10:g.(?_43479884)_(45501849_?)del deletion Kabuki syndrome 2 [RCV000172944] ChrX:43479884..45501849 [GRCh37]
ChrX:Xp11.3		 likely pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22		 pathogenic
GRCh38/hg38 Xp11.3(chrX:43640608-44123496)x2 copy number gain See cases [RCV000135327] ChrX:43640608..44123496 [GRCh38]
ChrX:43499856..43982742 [GRCh37]
ChrX:43384800..43867686 [NCBI36]
ChrX:Xp11.3		 pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp11.3(chrX:43573663-44655459)x3 copy number gain See cases [RCV000135763] ChrX:43573663..44655459 [GRCh38]
ChrX:43432911..44514705 [GRCh37]
ChrX:43317855..44399649 [NCBI36]
ChrX:Xp11.3		 uncertain significance
GRCh38/hg38 Xp11.4-11.3(chrX:42217978-43846754)x0 copy number loss See cases [RCV000135780] ChrX:42217978..43846754 [GRCh38]
ChrX:42077231..43706000 [GRCh37]
ChrX:41962175..43590944 [NCBI36]
ChrX:Xp11.4-11.3		 pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3		 pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3		 pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12		 pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25		 uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.3(chrX:43396992-43626868)x2 copy number gain See cases [RCV000447431] ChrX:43396992..43626868 [GRCh37]
ChrX:Xp11.3		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp21.1-11.3(chrX:36667388-44316141)x1 copy number loss See cases [RCV000446005] ChrX:36667388..44316141 [GRCh37]
ChrX:Xp21.1-11.3		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.4-11.3(chrX:40933552-45379179)x2 copy number gain See cases [RCV000448864] ChrX:40933552..45379179 [GRCh37]
ChrX:Xp11.4-11.3		 likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23		 pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1		 pathogenic
GRCh37/hg19 Xp11.4-11.23(chrX:41150139-46528262)x1 copy number loss See cases [RCV000511364] ChrX:41150139..46528262 [GRCh37]
ChrX:Xp11.4-11.23		 pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_000898.5(MAOB):c.988G>A (p.Asp330Asn) single nucleotide variant Inborn genetic diseases [RCV003258278] ChrX:43781485 [GRCh38]
ChrX:43640732 [GRCh37]
ChrX:Xp11.3		 uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23		 pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31		 pathogenic
GRCh37/hg19 Xp11.3(chrX:43396992-43626868)x2 copy number gain not provided [RCV000684323] ChrX:43396992..43626868 [GRCh37]
ChrX:Xp11.3		 uncertain significance
GRCh37/hg19 Xp11.4-11.3(chrX:42165435-43684005)x0 copy number loss not provided [RCV000845740] ChrX:42165435..43684005 [GRCh37]
ChrX:Xp11.4-11.3		 pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3		 pathogenic
NM_000898.5(MAOB):c.1444T>A (p.Leu482Met) single nucleotide variant not provided [RCV000948151] ChrX:43767585 [GRCh38]
ChrX:43626832 [GRCh37]
ChrX:Xp11.3		 likely benign
NM_000898.5(MAOB):c.84G>T (p.Leu28=) single nucleotide variant not provided [RCV000882975] ChrX:43843727 [GRCh38]
ChrX:43702973 [GRCh37]
ChrX:Xp11.3		 benign
NM_000898.5(MAOB):c.1464C>T (p.Ser488=) single nucleotide variant not provided [RCV000902466] ChrX:43767565 [GRCh38]
ChrX:43626812 [GRCh37]
ChrX:Xp11.3		 likely benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated circulating creatine kinase concentration [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3		 likely pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23		 pathogenic
NM_000898.5(MAOB):c.463C>T (p.Leu155Phe) single nucleotide variant Inborn genetic diseases [RCV003244602] ChrX:43802185 [GRCh38]
ChrX:43661432 [GRCh37]
ChrX:Xp11.3		 uncertain significance
NM_000898.5(MAOB):c.1443T>C (p.Phe481=) single nucleotide variant not provided [RCV000916094] ChrX:43767586 [GRCh38]
ChrX:43626833 [GRCh37]
ChrX:Xp11.3		 benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1		 pathogenic
NM_000898.5(MAOB):c.1138-9A>G single nucleotide variant not provided [RCV000885842] ChrX:43775281 [GRCh38]
ChrX:43634528 [GRCh37]
ChrX:Xp11.3		 likely benign
NM_000898.5(MAOB):c.837A>G (p.Pro279=) single nucleotide variant not provided [RCV000888883] ChrX:43793510 [GRCh38]
ChrX:43652757 [GRCh37]
ChrX:Xp11.3		 benign
NM_000898.5(MAOB):c.1410+8A>G single nucleotide variant not provided [RCV000974338] ChrX:43768646 [GRCh38]
ChrX:43627893 [GRCh37]
ChrX:Xp11.3		 benign
NM_000898.5(MAOB):c.402A>G (p.Pro134=) single nucleotide variant not provided [RCV000890374] ChrX:43802246 [GRCh38]
ChrX:43661493 [GRCh37]
ChrX:Xp11.3		 benign
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.4-11.3(chrX:41150139-43976458) copy number loss Microcephaly [RCV001252950] ChrX:41150139..43976458 [GRCh37]
ChrX:Xp11.4-11.3		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1 copy number loss not provided [RCV001007291] ChrX:32849282..43713387 [GRCh37]
ChrX:Xp21.1-11.3		 pathogenic
GRCh37/hg19 Xp11.3(chrX:43740441-43858706)x2 copy number gain not provided [RCV001258955] ChrX:43740441..43858706 [GRCh37]
ChrX:Xp11.3		 uncertain significance
GRCh37/hg19 Xp11.4-11.3(chrX:42069104-45843277)x1 copy number loss not provided [RCV001537898] ChrX:42069104..45843277 [GRCh37]
ChrX:Xp11.4-11.3		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789) copy number loss Turner syndrome [RCV002280669] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp11.4-11.3(chrX:39645568-44199000) copy number loss Cardiomyopathy [RCV001352652] ChrX:39645568..44199000 [GRCh37]
ChrX:Xp11.4-11.3		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp11.4-11.3(chrX:41342834-43901936) copy number loss Global developmental delay [RCV001352647] ChrX:41342834..43901936 [GRCh37]
ChrX:Xp11.4-11.3		 pathogenic
NC_000023.10:g.(?_43515590)_(43817891_?)del deletion Brunner syndrome [RCV003122219]|not provided [RCV003109235] ChrX:43515590..43817891 [GRCh37]
ChrX:Xp11.3		 pathogenic|no classifications from unflagged records
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_43515590)_(44970656_?)del deletion Kabuki syndrome 2 [RCV003109821] ChrX:43515590..44970656 [GRCh37]
ChrX:Xp11.3		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) copy number loss Turner syndrome [RCV002280671] ChrX:168546..57841304 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3 copy number gain not provided [RCV002474503] ChrX:39525562..52832596 [GRCh37]
ChrX:Xp11.4-11.22		 pathogenic
GRCh37/hg19 Xp11.3(chrX:43615734-44011605)x2 copy number gain not provided [RCV002472728] ChrX:43615734..44011605 [GRCh37]
ChrX:Xp11.3		 uncertain significance
GRCh37/hg19 Xp11.4-11.3(chrX:41350855-44616591)x0 copy number loss not provided [RCV002474537] ChrX:41350855..44616591 [GRCh37]
ChrX:Xp11.4-11.3		 pathogenic
NM_000898.5(MAOB):c.91G>A (p.Val31Ile) single nucleotide variant Inborn genetic diseases [RCV002733796] ChrX:43843720 [GRCh38]
ChrX:43702966 [GRCh37]
ChrX:Xp11.3		 uncertain significance
NM_000898.5(MAOB):c.842T>C (p.Met281Thr) single nucleotide variant Inborn genetic diseases [RCV002822349] ChrX:43793505 [GRCh38]
ChrX:43652752 [GRCh37]
ChrX:Xp11.3		 uncertain significance
NM_000898.5(MAOB):c.175T>G (p.Ser59Ala) single nucleotide variant Inborn genetic diseases [RCV002665240] ChrX:43838972 [GRCh38]
ChrX:43698218 [GRCh37]
ChrX:Xp11.3		 uncertain significance
NM_000898.5(MAOB):c.481G>T (p.Ala161Ser) single nucleotide variant Inborn genetic diseases [RCV002744638] ChrX:43797262 [GRCh38]
ChrX:43656509 [GRCh37]
ChrX:Xp11.3		 uncertain significance
NM_000898.5(MAOB):c.459C>G (p.Asp153Glu) single nucleotide variant Inborn genetic diseases [RCV003286189] ChrX:43802189 [GRCh38]
ChrX:43661436 [GRCh37]
ChrX:Xp11.3		 uncertain significance
GRCh37/hg19 Xp11.4-11.23(chrX:42046069-46491183)x0 copy number loss not provided [RCV003485371] ChrX:42046069..46491183 [GRCh37]
ChrX:Xp11.4-11.23		 pathogenic
GRCh37/hg19 Xp22.11-11.3(chrX:24633854-44236178)x1 copy number loss not provided [RCV003483418] ChrX:24633854..44236178 [GRCh37]
ChrX:Xp22.11-11.3		 pathogenic
GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1 copy number loss not provided [RCV003483920] ChrX:36355238..54106257 [GRCh37]
ChrX:Xp21.1-11.22		 pathogenic
GRCh37/hg19 Xp11.3(chrX:43678042-43809550)x2 copy number gain not provided [RCV003483956] ChrX:43678042..43809550 [GRCh37]
ChrX:Xp11.3		 uncertain significance
NM_000898.5(MAOB):c.1431C>T (p.Ile477=) single nucleotide variant not provided [RCV003438133] ChrX:43767598 [GRCh38]
ChrX:43626845 [GRCh37]
ChrX:Xp11.3		 likely benign
NM_000898.5(MAOB):c.82C>T (p.Leu28=) single nucleotide variant not provided [RCV003438134] ChrX:43843729 [GRCh38]
ChrX:43702975 [GRCh37]
ChrX:Xp11.3		 likely benign
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114) copy number loss not specified [RCV003986240] ChrX:168546..58364114 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170) copy number loss not specified [RCV003986200] ChrX:168546..55653170 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1 copy number loss not provided [RCV003483407] ChrX:2696762..53113314 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23		 pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_000898.5(MAOB):c.725G>A (p.Arg242Lys) single nucleotide variant Inborn genetic diseases [RCV003241349] ChrX:43795782 [GRCh38]
ChrX:43655029 [GRCh37]
ChrX:Xp11.3		 uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele complex Turner syndrome [RCV002280670] ChrX:590376..56315041 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_000898.5(MAOB):c.1465G>A (p.Val489Met) single nucleotide variant Inborn genetic diseases [RCV003305036] ChrX:43767564 [GRCh38]
ChrX:43626811 [GRCh37]
ChrX:Xp11.3		 uncertain significance
NM_000898.5(MAOB):c.121G>A (p.Gly41Ser) single nucleotide variant Inborn genetic diseases [RCV003378571] ChrX:43843690 [GRCh38]
ChrX:43702936 [GRCh37]
ChrX:Xp11.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1416
Count of miRNA genes:827
Interacting mature miRNAs:953
Transcripts:ENST00000378069, ENST00000468431, ENST00000487544, ENST00000536181, ENST00000538942
Prediction methods:Miranda, Pita, 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.

Markers in Region
DXS8035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,667,860 - 43,667,995UniSTSGRCh37
Build 36X43,552,804 - 43,552,939RGDNCBI36
CeleraX47,807,634 - 47,807,769RGD
Celera1013,231,917 - 13,231,997UniSTS
HuRef1013,217,639 - 13,217,719UniSTS
Marshfield Genetic MapX43.83RGD
Marshfield Genetic MapX43.83UniSTS
Genethon Genetic MapX70.2UniSTS
TNG Radiation Hybrid MapX11930.0UniSTS
DXS9741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,625,879 - 43,626,013UniSTSGRCh37
GRCh37X43,626,363 - 43,626,562UniSTSGRCh37
Build 36X43,510,823 - 43,510,957RGDNCBI36
CeleraX47,766,137 - 47,766,336UniSTS
CeleraX47,765,653 - 47,765,787RGD
Cytogenetic MapXp11.23UniSTS
HuRefX41,355,896 - 41,356,095UniSTS
HuRefX41,355,410 - 41,355,544UniSTS
TNG Radiation Hybrid MapX11919.0UniSTS
Stanford-G3 RH MapX1720.0UniSTS
NCBI RH MapX159.0UniSTS
GeneMap99-G3 RH MapX923.0UniSTS
DXS7152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,688,529 - 43,688,681UniSTSGRCh37
Build 36X43,573,473 - 43,573,625RGDNCBI36
CeleraX47,828,304 - 47,828,456RGD
Cytogenetic MapXp11.23UniSTS
HuRefX41,417,484 - 41,417,636UniSTS
Whitehead-RH MapX45.4UniSTS
NCBI RH MapX157.4UniSTS
GDB:180345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,702,534 - 43,702,715UniSTSGRCh37
Build 36X43,587,478 - 43,587,659RGDNCBI36
CeleraX47,842,307 - 47,842,488RGD
Cytogenetic MapXp11.23UniSTS
HuRefX41,431,485 - 41,431,660UniSTS
GDB:186952  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,702,582 - 43,702,786UniSTSGRCh37
Build 36X43,587,526 - 43,587,730RGDNCBI36
CeleraX47,842,355 - 47,842,559RGD
Cytogenetic MapXp11.23UniSTS
AL023616  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,740,455 - 43,740,631UniSTSGRCh37
Build 36X43,625,399 - 43,625,575RGDNCBI36
CeleraX47,880,215 - 47,880,391RGD
Cytogenetic MapXp11.23UniSTS
HuRefX41,469,466 - 41,469,642UniSTS
STS-H69551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,725,055 - 43,725,234UniSTSGRCh37
Build 36X43,609,999 - 43,610,178RGDNCBI36
CeleraX47,864,817 - 47,864,996RGD
Cytogenetic MapXp11.23UniSTS
HuRefX41,454,068 - 41,454,247UniSTS
GeneMap99-GB4 RH MapX130.56UniSTS
NCBI RH MapX154.6UniSTS
AFM217YA7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,728,072 - 43,728,219UniSTSGRCh37
Build 36X43,613,016 - 43,613,163RGDNCBI36
CeleraX47,867,834 - 47,867,981RGD
Cytogenetic MapXp11.23UniSTS
HuRefX41,457,085 - 41,457,232UniSTS
DXS7700  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,650,608 - 43,650,670UniSTSGRCh37
Build 36X43,535,552 - 43,535,614RGDNCBI36
CeleraX47,790,382 - 47,790,444RGD
Cytogenetic MapXp11.23UniSTS
HuRefX41,379,624 - 41,379,686UniSTS
RH45779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,696,973 - 43,697,102UniSTSGRCh37
Build 36X43,581,917 - 43,582,046RGDNCBI36
CeleraX47,836,746 - 47,836,875RGD
Cytogenetic MapXp11.23UniSTS
HuRefX41,425,924 - 41,426,053UniSTS
GeneMap99-GB4 RH MapX129.57UniSTS
NCBI RH MapX157.4UniSTS
DXS6741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,737,637 - 43,737,714UniSTSGRCh37
CeleraX47,877,399 - 47,877,474UniSTS
Cytogenetic MapXp11.23UniSTS
HuRefX41,466,650 - 41,466,725UniSTS
DXS9741  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.23UniSTS
Stanford-G3 RH MapX1748.0UniSTS
GeneMap99-G3 RH MapX952.0UniSTS


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
Medium 2109 2120 1286 606 239 447 3568 2040 3600 327 1134 963 161 1195 2563 3 2
Low 269 391 422 13 606 10 739 105 93 45 262 506 10 1 9 224 1
Below cutoff 32 473 10 4 522 6 27 27 19 29 28 48 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH002872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL008709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL020990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU127841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM726427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA975968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC326844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M69177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M77191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M89637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S62734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z95125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000378069   ⟹   ENSP00000367309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX43,766,610 - 43,882,450 (-)Ensembl
RefSeq Acc Id: ENST00000468431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX43,843,800 - 43,882,303 (-)Ensembl
RefSeq Acc Id: ENST00000487544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX43,797,212 - 43,882,435 (-)Ensembl
RefSeq Acc Id: NM_000898   ⟹   NP_000889
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X43,766,610 - 43,882,450 (-)NCBI
GRCh37X43,625,857 - 43,741,721 (-)ENTREZGENE
GRCh37X43,625,857 - 43,741,721 (-)NCBI
Build 36X43,510,801 - 43,626,665 (-)NCBI Archive
HuRefX41,355,388 - 41,470,732 (-)ENTREZGENE
CHM1_1X43,659,020 - 43,774,882 (-)NCBI
T2T-CHM13v2.0X43,172,827 - 43,288,647 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029524   ⟹   XP_016885013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X43,766,610 - 43,843,916 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054327069   ⟹   XP_054183044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X43,172,827 - 43,250,134 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_000889   ⟸   NM_000898
- UniProtKB: D3DWC3 (UniProtKB/Swiss-Prot),   B7Z5H3 (UniProtKB/Swiss-Prot),   B2R6R3 (UniProtKB/Swiss-Prot),   Q7Z6S2 (UniProtKB/Swiss-Prot),   P27338 (UniProtKB/Swiss-Prot),   Q8TBI1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885013   ⟸   XM_017029524
- Peptide Label: isoform X1
- UniProtKB: B7Z242 (UniProtKB/TrEMBL),   Q8TBI1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000367309   ⟸   ENST00000378069
RefSeq Acc Id: XP_054183044   ⟸   XM_054327069
- Peptide Label: isoform X1
- UniProtKB: B7Z242 (UniProtKB/TrEMBL)
Protein Domains
Amine oxidase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P27338-F1-model_v2 AlphaFold P27338 1-520 view protein structure

Promoters
RGD ID:6809021
Promoter ID:HG_KWN:66516
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_000898,   OTTHUMT00000056304,   OTTHUMT00000056306,   UC010NHJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X43,626,331 - 43,626,831 (-)MPROMDB
RGD ID:13605098
Promoter ID:EPDNEW_H28733
Type:initiation region
Name:MAOB_1
Description:monoamine oxidase B
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
GRCh38X43,882,419 - 43,882,479EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6834 AgrOrtholog
COSMIC MAOB COSMIC
Ensembl Genes ENSG00000069535 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000378069 ENTREZGENE
  ENST00000378069.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.50.50.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.660.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.250.130 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanine Nucleotide Dissociation Inhibitor, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000069535 GTEx
HGNC ID HGNC:6834 ENTREZGENE
Human Proteome Map MAOB Human Proteome Map
InterPro Amino_oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD/NAD-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Flavin_amine_oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4129 UniProtKB/Swiss-Prot
NCBI Gene 4129 ENTREZGENE
OMIM 309860 OMIM
PANTHER AMINE OXIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMINE OXIDASE [FLAVIN-CONTAINING] B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Amino_oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB MAOB RGD, PharmGKB
PRINTS AMINEOXDASEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP FAD-linked reductases, C-terminal domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51905 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt AOFB_HUMAN UniProtKB/Swiss-Prot
  B2R6R3 ENTREZGENE
  B7Z242 ENTREZGENE, UniProtKB/TrEMBL
  B7Z5H3 ENTREZGENE
  D3DWC3 ENTREZGENE
  P27338 ENTREZGENE
  Q7Z6S2 ENTREZGENE
  Q8TBI1 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2R6R3 UniProtKB/Swiss-Prot
  B7Z5H3 UniProtKB/Swiss-Prot
  D3DWC3 UniProtKB/Swiss-Prot
  Q7Z6S2 UniProtKB/Swiss-Prot