OTC (ornithine transcarbamylase) - Rat Genome Database

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Gene: OTC (ornithine transcarbamylase) Homo sapiens
Analyze
Symbol: OTC
Name: ornithine transcarbamylase
RGD ID: 732939
HGNC Page HGNC
Description: Exhibits ornithine carbamoyltransferase activity. Involved in alpha-amino acid metabolic process; ammonium homeostasis; and urea cycle. Localizes to mitochondrion. Implicated in ornithine carbamoyltransferase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: MGC129967; MGC129968; MGC138856; OCTD; ornithine carbamoyltransferase; ornithine carbamoyltransferase, mitochondrial; ornithine transcarbamylase, mitochondrial; OTCase; OTCD
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
GRCh38.p13 EnsemblX38,352,586 - 38,421,446 (+)EnsemblGRCh38hg38GRCh38
GRCh38X38,352,528 - 38,421,446 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X38,211,857 - 38,280,699 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X38,096,680 - 38,165,647 (+)NCBINCBI36hg18NCBI36
Build 34X37,967,574 - 38,036,826NCBI
CeleraX42,349,386 - 42,418,351 (+)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX35,956,917 - 36,026,112 (+)NCBIHuRef
CHM1_1X38,242,780 - 38,311,752 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(5-hydroxyindol-3-yl)acetic acid  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
aflatoxin B1  (EXP,ISO)
amiodarone  (ISO)
ammonia  (ISO)
ammonium chloride  (ISO)
arsenic acid  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (ISO)
Calcimycin  (ISO)
carbon nanotube  (ISO)
chloroform  (ISO)
clofibrate  (ISO)
cyclosporin A  (EXP,ISO)
dexamethasone  (ISO)
diazinon  (ISO)
dicrotophos  (EXP)
dioxygen  (EXP)
endosulfan  (EXP,ISO)
erythromycin estolate  (ISO)
flutamide  (ISO)
furan  (ISO)
glafenine  (ISO)
glycine  (ISO)
gossypol  (ISO)
indometacin  (ISO)
L-ethionine  (ISO)
lactacystin  (EXP)
lead diacetate  (ISO)
masoprocol  (ISO)
methapyrilene  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
N-Nitrosopyrrolidine  (EXP)
naloxone  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
O-methyleugenol  (EXP)
omeprazole  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (EXP,ISO)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (EXP,ISO)
Propiverine  (ISO)
quercetin  (ISO)
quinacrine  (ISO)
quinidine  (ISO)
rac-1,2-dichloropropane  (ISO)
serotonin  (ISO)
sodium arsenite  (EXP,ISO)
sodium benzoate  (ISO)
sodium dichromate  (ISO)
tauroursodeoxycholic acid  (ISO)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
theophylline  (ISO)
thioacetamide  (ISO)
troglitazone  (EXP,ISO)
ursodeoxycholic acid  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. Barber T, etal., Biochem J. 1985 Sep 15;230(3):675-81.
2. Bazel S, etal., Shock. 1999 May;11(5):347-55.
3. Beck B, etal., J Surg Res. 2005 Jun 1;126(1):19-26.
4. Carlson DE, etal., Shock. 2007 Feb;27(2):192-8.
5. GOA_HUMAN data from the GO Consortium
6. Hirota R, etal., Exp Clin Endocrinol Diabetes. 1998;106(2):117-22.
7. Hodges PE and Rosenberg LE, Proc Natl Acad Sci U S A. 1989 Jun;86(11):4142-6.
8. KEGG
9. Lane RH, etal., Pediatr Res. 1996 Mar;39(3):390-4.
10. Lardner AL and O'Donovan DJ, Metabolism. 1998 Feb;47(2):163-7.
11. Lim SP, etal., Dig Dis Sci. 1992 Aug;37(8):1275-81.
12. Matsui Y, etal., J Gastroenterol Hepatol. 1994 Nov-Dec;9(6):613-9.
13. Mavinakere M, etal., J Inherit Metab Dis. 2001 Nov;24(6):614-22.
14. Murayama H, etal., Clin Chim Acta. 2009 Mar;401(1-2):100-4. Epub 2008 Dec 10.
15. Murayama H, etal., J Gastroenterol Hepatol. 2009 Feb;24(2):270-7. Epub 2008 Sep 24.
16. Nagy GR, etal., J Perinatol. 2007 Feb;27(2):123-4.
17. OMIM Disease Annotation Pipeline
18. Oppliger Leibundgut EO, etal., Hum Mutat. 1996;8(4):333-9.
19. Ozaki M, etal., Enzyme Protein. 1994-1995;48(4):213-21.
20. Pipeline to import KEGG annotations from KEGG into RGD
21. Pipeline to import SMPDB annotations from SMPDB into RGD
22. Powers-Lee SG, etal., J Biol Chem. 1987 Nov 15;262(32):15683-8.
23. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
24. RGD automated import pipeline for gene-chemical interactions
25. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
26. Saheki T, etal., Biochim Biophys Acta. 1995 Jan 25;1270(1):87-93.
27. Tuchman M, etal., Hum Mutat. 2002 Feb;19(2):93-107.
28. Tygstrup N, etal., Biochem Biophys Res Commun 2002 Jan 11;290(1):518-25.
29. Vasudevan S, etal., Biochem Mol Biol Int. 1995 Mar;35(3):685-90.
30. Yamini S, etal., Int J Obes Relat Metab Disord. 1992 Oct;16(10):765-74.
Additional References at PubMed
PMID:1353535   PMID:1480464   PMID:1602151   PMID:1627356   PMID:1671317   PMID:1721894   PMID:1757964   PMID:2035531   PMID:2037279   PMID:2208768   PMID:2347583   PMID:2474822  
PMID:2556444   PMID:2575934   PMID:2722850   PMID:2741942   PMID:2836378   PMID:2843770   PMID:2983225   PMID:3170748   PMID:3472484   PMID:3782067   PMID:3891325   PMID:3895227  
PMID:3943133   PMID:6169723   PMID:6372096   PMID:6494904   PMID:6942417   PMID:7085676   PMID:7474905   PMID:7627182   PMID:7860064   PMID:7860066   PMID:7951259   PMID:8019569  
PMID:8081373   PMID:8081398   PMID:8099056   PMID:8112735   PMID:8364586   PMID:8530002   PMID:8544185   PMID:8807340   PMID:8830175   PMID:8863155   PMID:8956045   PMID:9056557  
PMID:9065786   PMID:9143919   PMID:9266388   PMID:9286441   PMID:9756929   PMID:9852088   PMID:10070627   PMID:10405441   PMID:10502831   PMID:10565370   PMID:10737985   PMID:10813810  
PMID:11260212   PMID:11793483   PMID:12083811   PMID:12477932   PMID:12516615   PMID:12618087   PMID:15300856   PMID:15489334   PMID:15692798   PMID:15772651   PMID:16712791   PMID:16786505  
PMID:17041896   PMID:17570074   PMID:17570354   PMID:17893704   PMID:18029348   PMID:18030415   PMID:18204299   PMID:18983895   PMID:19138872   PMID:19359120   PMID:19475717   PMID:19574962  
PMID:19893582   PMID:20127982   PMID:20301396   PMID:20817516   PMID:21873635   PMID:21956151   PMID:24006547   PMID:24711021   PMID:25011434   PMID:25026867   PMID:25056436   PMID:25297582  
PMID:25853564   PMID:25994866   PMID:26059767   PMID:26446336   PMID:27431689   PMID:28514442   PMID:28824294   PMID:29282796   PMID:29623395   PMID:29676528   PMID:30223008   PMID:32014801  
PMID:32273051   PMID:32410394   PMID:32877691  


Genomics

Comparative Map Data
OTC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX38,352,586 - 38,421,446 (+)EnsemblGRCh38hg38GRCh38
GRCh38X38,352,528 - 38,421,446 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X38,211,857 - 38,280,699 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X38,096,680 - 38,165,647 (+)NCBINCBI36hg18NCBI36
Build 34X37,967,574 - 38,036,826NCBI
CeleraX42,349,386 - 42,418,351 (+)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX35,956,917 - 36,026,112 (+)NCBIHuRef
CHM1_1X38,242,780 - 38,311,752 (+)NCBICHM1_1
Otc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X10,118,500 - 10,187,263 (+)NCBIGRCm39mm39
GRCm39 EnsemblX10,118,544 - 10,187,263 (+)Ensembl
GRCm38X10,252,230 - 10,321,024 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX10,252,305 - 10,321,024 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X9,829,485 - 9,898,150 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X9,409,318 - 9,477,983 (+)NCBImm8
CeleraX7,959,918 - 8,027,592 (+)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX4.66NCBI
Otc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X12,453,834 - 12,529,954 (-)NCBI
Rnor_6.0 EnsemblX13,524,607 - 13,601,069 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X13,524,804 - 13,601,074 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X14,314,381 - 14,390,615 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X24,609,141 - 24,685,341 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X24,662,538 - 24,738,739 (-)NCBI
CeleraX13,066,848 - 13,142,959 (-)NCBICelera
Cytogenetic MapXq12NCBI
Otc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955601481,480 - 543,176 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955601481,524 - 543,176 (+)NCBIChiLan1.0ChiLan1.0
OTC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X38,505,232 - 38,575,819 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX38,505,232 - 38,575,819 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X30,796,828 - 30,868,144 (+)NCBIMhudiblu_PPA_v0panPan3
OTC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X33,130,921 - 33,200,441 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX33,131,040 - 33,199,595 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX20,480,372 - 20,549,747 (+)NCBI
ROS_Cfam_1.0X33,180,977 - 33,250,571 (+)NCBI
UMICH_Zoey_3.1X33,260,092 - 33,329,644 (+)NCBI
UNSW_CanFamBas_1.0X33,232,194 - 33,301,531 (+)NCBI
UU_Cfam_GSD_1.0X33,274,004 - 33,343,384 (+)NCBI
Otc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X25,393,542 - 25,451,192 (+)NCBI
SpeTri2.0NW_0049365025,234,253 - 5,291,891 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OTC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX34,322,298 - 34,391,837 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X34,322,398 - 34,391,711 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X38,182,326 - 38,251,612 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig CytomapXpNCBI
OTC
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X35,494,334 - 35,570,923 (+)NCBI
ChlSab1.1 EnsemblX35,494,287 - 35,570,845 (+)Ensembl
Otc
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476217,038,223 - 17,104,853 (-)NCBI

Position Markers
RH102977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,280,305 - 38,280,469UniSTSGRCh37
Build 36X38,165,249 - 38,165,413RGDNCBI36
CeleraX42,417,953 - 42,418,117RGD
Cytogenetic MapXp21.1UniSTS
HuRefX36,025,714 - 36,025,878UniSTS
GeneMap99-GB4 RH MapX114.92UniSTS
GDB:439386  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,240,508 - 38,240,730UniSTSGRCh37
Build 36X38,125,452 - 38,125,674RGDNCBI36
CeleraX42,378,152 - 42,378,374RGD
Cytogenetic MapXp21.1UniSTS
HuRefX35,985,563 - 35,985,785UniSTS
DXS9851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,211,845 - 38,212,061UniSTSGRCh37
Build 36X38,096,789 - 38,097,005RGDNCBI36
CeleraX42,349,495 - 42,349,711RGD
Cytogenetic MapXp21.1UniSTS
HuRefX35,957,026 - 35,957,242UniSTS
GDB:177425  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,260,527 - 38,260,682UniSTSGRCh37
Build 36X38,145,471 - 38,145,626RGDNCBI36
CeleraX42,398,171 - 42,398,326RGD
Cytogenetic MapXp21.1UniSTS
HuRefX36,005,505 - 36,005,660UniSTS
GDB:178410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,226,585 - 38,226,700UniSTSGRCh37
Build 36X38,111,529 - 38,111,644RGDNCBI36
CeleraX42,364,228 - 42,364,343RGD
Cytogenetic MapXp21.1UniSTS
HuRefX35,971,716 - 35,971,831UniSTS
GDB:190001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,260,516 - 38,260,664UniSTSGRCh37
Build 36X38,145,460 - 38,145,608RGDNCBI36
CeleraX42,398,160 - 42,398,308RGD
Cytogenetic MapXp21.1UniSTS
HuRefX36,005,494 - 36,005,642UniSTS
GDB:439377  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,211,905 - 38,212,083UniSTSGRCh37
Build 36X38,096,849 - 38,097,027RGDNCBI36
CeleraX42,349,555 - 42,349,733RGD
Cytogenetic MapXp21.1UniSTS
HuRefX35,957,086 - 35,957,264UniSTS
GDB:439383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,226,482 - 38,226,731UniSTSGRCh37
Build 36X38,111,426 - 38,111,675RGDNCBI36
CeleraX42,364,125 - 42,364,374RGD
Cytogenetic MapXp21.1UniSTS
GDB:439389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,260,477 - 38,260,746UniSTSGRCh37
Build 36X38,145,421 - 38,145,690RGDNCBI36
CeleraX42,398,121 - 42,398,390RGD
Cytogenetic MapXp21.1UniSTS
HuRefX36,005,455 - 36,005,724UniSTS
GDB:439392  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,262,838 - 38,263,038UniSTSGRCh37
Build 36X38,147,782 - 38,147,982RGDNCBI36
CeleraX42,400,485 - 42,400,685RGD
Cytogenetic MapXp21.1UniSTS
HuRefX36,007,818 - 36,008,018UniSTS
GDB:439398  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,271,070 - 38,271,343UniSTSGRCh37
Build 36X38,156,014 - 38,156,287RGDNCBI36
CeleraX42,408,717 - 42,408,990RGD
Cytogenetic MapXp21.1UniSTS
HuRefX36,016,452 - 36,016,725UniSTS
GDB:439401  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,280,210 - 38,280,389UniSTSGRCh37
Build 36X38,165,154 - 38,165,333RGDNCBI36
CeleraX42,417,858 - 42,418,037RGD
Cytogenetic MapXp21.1UniSTS
HuRefX36,025,619 - 36,025,798UniSTS
SHGC-6137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,211,845 - 38,212,061UniSTSGRCh37
Build 36X38,096,789 - 38,097,005RGDNCBI36
CeleraX42,349,495 - 42,349,711RGD
Cytogenetic MapXp21.1UniSTS
HuRefX35,957,026 - 35,957,242UniSTS
Stanford-G3 RH MapX1603.0UniSTS
GeneMap99-G3 RH MapX802.0UniSTS
DXS8327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,280,374 - 38,280,476UniSTSGRCh37
Build 36X38,165,318 - 38,165,420RGDNCBI36
CeleraX42,418,022 - 42,418,124RGD
Cytogenetic MapXp21.1UniSTS
HuRefX36,025,783 - 36,025,885UniSTS
GeneMap99-GB4 RH MapX114.92UniSTS
Whitehead-RH MapX35.1UniSTS
Whitehead-YAC Contig MapX UniSTS
GDB:177412  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp21.1UniSTS
OTC  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,226,544 - 38,226,656UniSTSGRCh37
CeleraX42,364,187 - 42,364,299UniSTS
HuRefX35,971,675 - 35,971,787UniSTS
GDB:511285  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp21.1UniSTS
HuRefX35,985,563 - 35,985,788UniSTS
GDB:177413  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp21.1UniSTS
RH68978  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp21.1UniSTS
GeneMap99-GB4 RH Map9338.84UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:247
Count of miRNA genes:221
Interacting mature miRNAs:240
Transcripts:ENST00000039007, ENST00000488812
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.


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 adipose tissue appendage
High
Medium 155 5 386 385 124 385 3 2 1 3 1 2 2
Low 777 581 331 49 131 49 655 176 468 32 654 647 2 425 441
Below cutoff 1031 1342 739 86 450 12 1918 960 2881 145 437 626 74 586 1211

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF241726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI247721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL606748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL607040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX118743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX494966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB158478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D00095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D00230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K02100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S73640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000039007   ⟹   ENSP00000039007
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,352,604 - 38,421,446 (+)Ensembl
RefSeq Acc Id: ENST00000488812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,352,605 - 38,403,667 (+)Ensembl
RefSeq Acc Id: ENST00000643344   ⟹   ENSP00000496606
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,352,586 - 38,421,067 (+)Ensembl
RefSeq Acc Id: NM_000531   ⟹   NP_000522
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,352,604 - 38,421,446 (+)NCBI
GRCh37X38,211,736 - 38,280,703 (+)ENTREZGENE
Build 36X38,096,680 - 38,165,647 (+)NCBI Archive
HuRefX35,956,917 - 36,026,112 (+)ENTREZGENE
CHM1_1X38,242,780 - 38,311,752 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029556   ⟹   XP_016885045
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,352,528 - 38,411,879 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000522   ⟸   NM_000531
- Peptide Label: precursor
- UniProtKB: P00480 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885045   ⟸   XM_017029556
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000039007   ⟸   ENST00000039007
RefSeq Acc Id: ENSP00000496606   ⟸   ENST00000643344
Protein Domains
OTCace_N

Promoters
RGD ID:13605048
Promoter ID:EPDNEW_H28708
Type:initiation region
Name:OTC_1
Description:ornithine carbamoyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28709  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,352,604 - 38,352,664EPDNEW
RGD ID:13605050
Promoter ID:EPDNEW_H28709
Type:multiple initiation site
Name:OTC_2
Description:ornithine carbamoyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28708  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,403,760 - 38,403,820EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000531.6(OTC):c.540+265G>A single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000548908]|Protein avoidance [RCV000626698]|not provided [RCV000521922] ChrX:38401693 [GRCh38]
ChrX:38260946 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000531.6(OTC):c.912G>T (p.Leu304Phe) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011755]|not provided [RCV000083607] ChrX:38411906 [GRCh38]
ChrX:38271159 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000531.6(OTC):c.1033T>G (p.Tyr345Asp) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011756]|not provided [RCV000083325] ChrX:38421050 [GRCh38]
ChrX:38280303 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.386G>A (p.Arg129His) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011757]|not provided [RCV000083414] ChrX:38381429 [GRCh38]
ChrX:38240682 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.444G>C (p.Leu148Phe) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011758]|not provided [RCV000083441] ChrX:38401332 [GRCh38]
ChrX:38260585 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.617T>G (p.Met206Arg) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011759]|not provided [RCV000083513] ChrX:38403694 [GRCh38]
ChrX:38262947 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011760]|not provided [RCV000083332] ChrX:38367331 [GRCh38]
ChrX:38226584 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000531.6(OTC):c.119G>A (p.Arg40His) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011761]|not provided [RCV000083333] ChrX:38367332 [GRCh38]
ChrX:38226585 [GRCh37]
ChrX:Xp11.4
pathogenic
OTC, DEL deletion Ornithine carbamoyltransferase deficiency [RCV000011733] ChrX:Xp21.1 pathogenic
NM_000531.6(OTC):c.422G>A (p.Arg141Gln) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011734]|not provided [RCV000083434] ChrX:38401310 [GRCh38]
ChrX:38260563 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.421C>T (p.Arg141Ter) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011735]|not provided [RCV000083433] ChrX:38401309 [GRCh38]
ChrX:38260562 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.332T>C (p.Leu111Pro) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011736] ChrX:38381375 [GRCh38]
ChrX:38240628 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.646C>G (p.Gln216Glu) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011737]|not provided [RCV000083523] ChrX:38403723 [GRCh38]
ChrX:38262976 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.460G>T (p.Glu154Ter) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011738]|not provided [RCV000083446] ChrX:38401348 [GRCh38]
ChrX:38260601 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.134T>C (p.Leu45Pro) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011739]|not provided [RCV000083338] ChrX:38367347 [GRCh38]
ChrX:38226600 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.77G>A (p.Arg26Gln) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011740]|not provided [RCV000083565] ChrX:38352773 [GRCh38]
ChrX:38212026 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) single nucleotide variant History of neurodevelopmental disorder [RCV000715362]|ORNITHINE TRANSCARBAMYLASE POLYMORPHISM [RCV000011741]|Ornithine carbamoyltransferase deficiency [RCV000268490]|not specified [RCV000079082] ChrX:38367350 [GRCh38]
ChrX:38226603 [GRCh37]
ChrX:Xp11.4
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
OTC, ARG245TRP variation Ornithine carbamoyltransferase deficiency [RCV000011742] ChrX:Xp21.1 pathogenic
NM_000531.6(OTC):c.717+2T>C single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011743]|not provided [RCV000083544] ChrX:38408797 [GRCh38]
ChrX:38268050 [GRCh37]
ChrX:Xp11.4
pathogenic
OTC, IVS7DS, A-G, +3 single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011744] ChrX:Xp21.1 pathogenic
NM_000531.6(OTC):c.387-2A>T single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011745]|not provided [RCV000083419] ChrX:38401273 [GRCh38]
ChrX:38260526 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.829C>T (p.Arg277Trp) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011746]|not provided [RCV000083586] ChrX:38408987 [GRCh38]
ChrX:38268240 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011747]|not provided [RCV000083536] ChrX:38408752 [GRCh38]
ChrX:38268005 [GRCh37]
ChrX:Xp11.4
pathogenic|conflicting interpretations of pathogenicity
NM_000531.6(OTC):c.259G>A (p.Glu87Lys) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011748]|not provided [RCV000083376] ChrX:38369838 [GRCh38]
ChrX:38229091 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.148G>T (p.Gly50Ter) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011749]|not provided [RCV000083346] ChrX:38367361 [GRCh38]
ChrX:38226614 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.484G>A (p.Gly162Arg) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011750]|not provided [RCV000083456] ChrX:38401372 [GRCh38]
ChrX:38260625 [GRCh37]
ChrX:Xp11.4
pathogenic
OTC, 1-BP DEL, 403G deletion Ornithine carbamoyltransferase deficiency [RCV000011751] ChrX:Xp21.1 pathogenic
OTC, IVS2, G-A, -1 single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011752] ChrX:Xp21.1 pathogenic
NM_000531.6(OTC):c.236G>A (p.Gly79Glu) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011753]|not provided [RCV000083369] ChrX:38369815 [GRCh38]
ChrX:38229068 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.281G>C (p.Arg94Thr) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011754]|not provided [RCV000083388] ChrX:38369860 [GRCh38]
ChrX:38229113 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.5(OTC):c.540+397A>G single nucleotide variant Lung cancer [RCV000102589] ChrX:38401825 [GRCh38]
ChrX:38261078 [GRCh37]
ChrX:Xp11.4
uncertain significance
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 Xp22.11-11.4(chrX:22420237-38834728)x1 copy number loss See cases [RCV000053063] ChrX:22420237..38834728 [GRCh38]
ChrX:22438354..38693981 [GRCh37]
ChrX:22348275..38578925 [NCBI36]
ChrX:Xp22.11-11.4
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: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 Xp22.33-11.21(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-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_000531.5(OTC):c.68G>A (p.Arg23Gln) single nucleotide variant Malignant melanoma [RCV000073189] ChrX:38352764 [GRCh38]
ChrX:38212017 [GRCh37]
ChrX:38096961 [NCBI36]
ChrX:Xp11.4
not provided
NM_000531.6(OTC):c.645dup (p.Gln216fs) duplication not provided [RCV000083522] ChrX:38403720..38403721 [GRCh38]
ChrX:38262973..38262974 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.1005+1G>T single nucleotide variant not provided [RCV000083313] ChrX:38412000 [GRCh38]
ChrX:38271253 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.1005+2T>C single nucleotide variant not provided [RCV000083314] ChrX:38412001 [GRCh38]
ChrX:38271254 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.1005G>A (p.Met335Ile) single nucleotide variant not provided [RCV000083315] ChrX:38411999 [GRCh38]
ChrX:38271252 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.1006-1G>A single nucleotide variant not provided [RCV000083316] ChrX:38421022 [GRCh38]
ChrX:38280275 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.1006-3C>G single nucleotide variant not provided [RCV000083317] ChrX:38421020 [GRCh38]
ChrX:38280273 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.1006G>T (p.Ala336Ser) single nucleotide variant not provided [RCV000083318] ChrX:38421023 [GRCh38]
ChrX:38280276 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.1009G>C (p.Val337Leu) single nucleotide variant not provided [RCV000083319] ChrX:38421026 [GRCh38]
ChrX:38280279 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.1015G>C (p.Val339Leu) single nucleotide variant not provided [RCV000083320] ChrX:38421032 [GRCh38]
ChrX:38280285 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.1018T>C (p.Ser340Pro) single nucleotide variant not provided [RCV000083321] ChrX:38421035 [GRCh38]
ChrX:38280288 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.1022T>C (p.Leu341Pro) single nucleotide variant not provided [RCV000083322] ChrX:38421039 [GRCh38]
ChrX:38280292 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.1028C>A (p.Thr343Lys) single nucleotide variant not provided [RCV000083323] ChrX:38421045 [GRCh38]
ChrX:38280298 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.1033T>C (p.Tyr345His) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001063477]|not provided [RCV000083324] ChrX:38421050 [GRCh38]
ChrX:38280303 [GRCh37]
ChrX:Xp11.4
pathogenic|uncertain significance
NM_000531.6(OTC):c.1034A>G (p.Tyr345Cys) single nucleotide variant not provided [RCV000083326] ChrX:38421051 [GRCh38]
ChrX:38280304 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.1039C>A (p.Pro347Thr) single nucleotide variant not provided [RCV000083327] ChrX:38421056 [GRCh38]
ChrX:38280309 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.1042C>T (p.Gln348Ter) single nucleotide variant not provided [RCV000083328] ChrX:38421059 [GRCh38]
ChrX:38280312 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001095686]|not provided [RCV000083329] ChrX:38421078 [GRCh38]
ChrX:38280331 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000531.6(OTC):c.106C>T (p.Gln36Ter) single nucleotide variant not provided [RCV000083330] ChrX:38367319 [GRCh38]
ChrX:38226572 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.115G>T (p.Gly39Cys) single nucleotide variant not provided [RCV000083331] ChrX:38367328 [GRCh38]
ChrX:38226581 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.122A>G (p.Asp41Gly) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001064676]|not provided [RCV000083334] ChrX:38367335 [GRCh38]
ChrX:38226588 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000531.6(OTC):c.127C>T (p.Leu43Phe) single nucleotide variant not provided [RCV000083335] ChrX:38367340 [GRCh38]
ChrX:38226593 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.131C>T (p.Thr44Ile) single nucleotide variant not provided [RCV000083336] ChrX:38367344 [GRCh38]
ChrX:38226597 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.133C>G (p.Leu45Val) single nucleotide variant not provided [RCV000083337] ChrX:38367346 [GRCh38]
ChrX:38226599 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.140del (p.Asn47fs) deletion not provided [RCV000083339] ChrX:38367348 [GRCh38]
ChrX:38226601 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000148720]|not provided [RCV000083340]|not specified [RCV000454814] ChrX:38367353 [GRCh38]
ChrX:38226606 [GRCh37]
ChrX:Xp11.4
pathogenic|uncertain significance
NM_000531.6(OTC):c.140A>T (p.Asn47Ile) single nucleotide variant not provided [RCV000083341] ChrX:38367353 [GRCh38]
ChrX:38226606 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.140_141insG (p.Asn47fs) insertion Ornithine carbamoyltransferase deficiency [RCV001260429]|not provided [RCV000083342] ChrX:38367353..38367354 [GRCh38]
ChrX:38226606..38226607 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000531.6(OTC):c.143T>C (p.Phe48Ser) single nucleotide variant not provided [RCV000083343] ChrX:38367356 [GRCh38]
ChrX:38226609 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.145A>C (p.Thr49Pro) single nucleotide variant not provided [RCV000083344] ChrX:38367358 [GRCh38]
ChrX:38226611 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.148G>A (p.Gly50Arg) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001027709]|not provided [RCV000083345] ChrX:38367361 [GRCh38]
ChrX:38226614 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.154G>A (p.Glu52Lys) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000807816]|not provided [RCV000083347] ChrX:38367367 [GRCh38]
ChrX:38226620 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.154G>T (p.Glu52Ter) single nucleotide variant not provided [RCV000083348] ChrX:38367367 [GRCh38]
ChrX:38226620 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.155A>G (p.Glu52Gly) single nucleotide variant not provided [RCV000083349] ChrX:38367368 [GRCh38]
ChrX:38226621 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.156A>T (p.Glu52Asp) single nucleotide variant not provided [RCV000083350] ChrX:38367369 [GRCh38]
ChrX:38226622 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.158T>C (p.Ile53Thr) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000792966]|not provided [RCV000083351] ChrX:38367371 [GRCh38]
ChrX:38226624 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic|uncertain significance
NM_000531.6(OTC):c.158T>G (p.Ile53Ser) single nucleotide variant not provided [RCV000083352] ChrX:38367371 [GRCh38]
ChrX:38226624 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.163T>G (p.Tyr55Asp) single nucleotide variant not provided [RCV000083353] ChrX:38367376 [GRCh38]
ChrX:38226629 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.167T>C (p.Met56Thr) single nucleotide variant not provided [RCV000083354]|not specified [RCV000507068] ChrX:38367380 [GRCh38]
ChrX:38226633 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000531.6(OTC):c.170T>A (p.Leu57Gln) single nucleotide variant not provided [RCV000083355] ChrX:38367383 [GRCh38]
ChrX:38226636 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.174G>A (p.Trp58Ter) single nucleotide variant not provided [RCV000083356] ChrX:38367387 [GRCh38]
ChrX:38226640 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.179C>T (p.Ser60Leu) single nucleotide variant not provided [RCV000083357] ChrX:38367392 [GRCh38]
ChrX:38226645 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.188T>C (p.Leu63Pro) single nucleotide variant not provided [RCV000083358] ChrX:38367401 [GRCh38]
ChrX:38226654 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV000083359] ChrX:38352697 [GRCh38]
ChrX:38211950 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV000083360] ChrX:38352697 [GRCh38]
ChrX:38211950 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.200T>G (p.Ile67Arg) single nucleotide variant not provided [RCV000083361] ChrX:38367413 [GRCh38]
ChrX:38226666 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.205C>T (p.Gln69Ter) single nucleotide variant not provided [RCV000083362] ChrX:38367418 [GRCh38]
ChrX:38226671 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.216+1G>A single nucleotide variant not provided [RCV000083363] ChrX:38367430 [GRCh38]
ChrX:38226683 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.216+1G>T single nucleotide variant not provided [RCV000083364] ChrX:38367430 [GRCh38]
ChrX:38226683 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.217-1G>A single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011752]|not provided [RCV000083365] ChrX:38369795 [GRCh38]
ChrX:38229048 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.227T>C (p.Leu76Ser) single nucleotide variant not provided [RCV000083366] ChrX:38369806 [GRCh38]
ChrX:38229059 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.231G>T (p.Leu77Phe) single nucleotide variant not provided [RCV000083367] ChrX:38369810 [GRCh38]
ChrX:38229063 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.232C>T (p.Gln78Ter) single nucleotide variant not provided [RCV000083368] ChrX:38369811 [GRCh38]
ChrX:38229064 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.240G>T (p.Lys80Asn) single nucleotide variant not provided [RCV000083371] ChrX:38369819 [GRCh38]
ChrX:38229072 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.243_245del (p.Leu82del) deletion not provided [RCV000083372] ChrX:38369822..38369824 [GRCh38]
ChrX:38229075..38229077 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.245T>G (p.Leu82Ter) single nucleotide variant not provided [RCV000083373] ChrX:38369824 [GRCh38]
ChrX:38229077 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.247G>C (p.Gly83Arg) single nucleotide variant not provided [RCV000083374] ChrX:38369826 [GRCh38]
ChrX:38229079 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.248G>A (p.Gly83Asp) single nucleotide variant not provided [RCV000083375] ChrX:38369827 [GRCh38]
ChrX:38229080 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.264A>T (p.Lys88Asn) single nucleotide variant not provided [RCV000083377] ChrX:38369843 [GRCh38]
ChrX:38229096 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.268A>G (p.Ser90Gly) single nucleotide variant not provided [RCV000083378] ChrX:38369847 [GRCh38]
ChrX:38229100 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.269G>A (p.Ser90Asn) single nucleotide variant not provided [RCV000083379] ChrX:38369848 [GRCh38]
ChrX:38229101 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.270T>G (p.Ser90Arg) single nucleotide variant not provided [RCV000083380] ChrX:38369849 [GRCh38]
ChrX:38229102 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.271del (p.Thr91fs) deletion not provided [RCV000083381] ChrX:38369850 [GRCh38]
ChrX:38229103 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.274C>G (p.Arg92Gly) single nucleotide variant not provided [RCV000083382] ChrX:38369853 [GRCh38]
ChrX:38229106 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.274C>T (p.Arg92Ter) single nucleotide variant not provided [RCV000083383] ChrX:38369853 [GRCh38]
ChrX:38229106 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.275G>A (p.Arg92Gln) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000990783]|not provided [RCV000083384] ChrX:38369854 [GRCh38]
ChrX:38229107 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.275G>C (p.Arg92Pro) single nucleotide variant not provided [RCV000083385] ChrX:38369854 [GRCh38]
ChrX:38229107 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.275G>T (p.Arg92Leu) single nucleotide variant not provided [RCV000083386] ChrX:38369854 [GRCh38]
ChrX:38229107 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.277A>G (p.Thr93Ala) single nucleotide variant not provided [RCV000083387] ChrX:38369856 [GRCh38]
ChrX:38229109 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.284T>C (p.Leu95Ser) single nucleotide variant not provided [RCV000083389] ChrX:38369863 [GRCh38]
ChrX:38229116 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.29_32del (p.Asn10fs) deletion not provided [RCV000083390] ChrX:38352723..38352726 [GRCh38]
ChrX:38211976..38211979 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.292G>A (p.Glu98Lys) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000634846]|not provided [RCV000083391] ChrX:38369871 [GRCh38]
ChrX:38229124 [GRCh37]
ChrX:Xp11.4
pathogenic|uncertain significance
NM_000531.6(OTC):c.298+1G>A single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000560147]|not provided [RCV000083392] ChrX:38369878 [GRCh38]
ChrX:38229131 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.298+1G>T single nucleotide variant not provided [RCV000083393] ChrX:38369878 [GRCh38]
ChrX:38229131 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.298+1_298+5del deletion not provided [RCV000083394] ChrX:38369876..38369880 [GRCh38]
ChrX:38229129..38229133 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.298+5G>C single nucleotide variant History of neurodevelopmental disorder [RCV000718375]|Ornithine carbamoyltransferase deficiency [RCV000378189]|not provided [RCV000083395]|not specified [RCV000375335] ChrX:38369882 [GRCh38]
ChrX:38229135 [GRCh37]
ChrX:Xp11.4
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000531.6(OTC):c.299G>A (p.Gly100Asp) single nucleotide variant not provided [RCV000083396] ChrX:38381342 [GRCh38]
ChrX:38240595 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV000083397] ChrX:38352698 [GRCh38]
ChrX:38211951 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.305C>A (p.Ala102Glu) single nucleotide variant not provided [RCV000083398] ChrX:38381348 [GRCh38]
ChrX:38240601 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.314G>T (p.Gly105Val) single nucleotide variant not provided [RCV000083399] ChrX:38381357 [GRCh38]
ChrX:38240610 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.316G>A (p.Gly106Arg) single nucleotide variant not provided [RCV000083400] ChrX:38381359 [GRCh38]
ChrX:38240612 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.317G>A (p.Gly106Glu) single nucleotide variant not provided [RCV000083401] ChrX:38381360 [GRCh38]
ChrX:38240613 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.317G>T (p.Gly106Val) single nucleotide variant not provided [RCV000083402] ChrX:38381360 [GRCh38]
ChrX:38240613 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.330del (p.Thr112fs) deletion not provided [RCV000083403] ChrX:38381370 [GRCh38]
ChrX:38240623 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.350A>G (p.His117Arg) single nucleotide variant not provided [RCV000083404] ChrX:38381393 [GRCh38]
ChrX:38240646 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.350A>T (p.His117Leu) single nucleotide variant not provided [RCV000083405] ChrX:38381393 [GRCh38]
ChrX:38240646 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.357_358TG[1] (p.Val120fs) microsatellite not provided [RCV000083406] ChrX:38381399..38381400 [GRCh38]
ChrX:38240652..38240653 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.364_365insTT (p.Glu122fs) insertion Ornithine carbamoyltransferase deficiency [RCV001251324]|not provided [RCV000083407] ChrX:38381407..38381408 [GRCh38]
ChrX:38240660..38240661 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000531.6(OTC):c.374C>T (p.Thr125Met) single nucleotide variant Hyperammonemia [RCV000148721]|Ornithine carbamoyltransferase deficiency [RCV000702655]|not provided [RCV000083408] ChrX:38381417 [GRCh38]
ChrX:38240670 [GRCh37]
ChrX:Xp11.4
pathogenic|uncertain significance
NM_000531.6(OTC):c.376del (p.Asp126fs) deletion not provided [RCV000083409] ChrX:38381418 [GRCh38]
ChrX:38240671 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.377A>G (p.Asp126Gly) single nucleotide variant not provided [RCV000083410] ChrX:38381420 [GRCh38]
ChrX:38240673 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.386+1G>A single nucleotide variant not provided [RCV000083411] ChrX:38381430 [GRCh38]
ChrX:38240683 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.386+1G>T single nucleotide variant not provided [RCV000083412] ChrX:38381430 [GRCh38]
ChrX:38240683 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.386+2T>C single nucleotide variant not provided [RCV000083413] ChrX:38381431 [GRCh38]
ChrX:38240684 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.386G>C (p.Arg129Pro) single nucleotide variant not provided [RCV000083415] ChrX:38381429 [GRCh38]
ChrX:38240682 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.386G>T (p.Arg129Leu) single nucleotide variant not provided [RCV000083416] ChrX:38381429 [GRCh38]
ChrX:38240682 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.387-2A>C single nucleotide variant not provided [RCV000083417] ChrX:38401273 [GRCh38]
ChrX:38260526 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.387-2A>G single nucleotide variant not provided [RCV000083418] ChrX:38401273 [GRCh38]
ChrX:38260526 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.390_392dup (p.Leu131dup) duplication not provided [RCV000083420] ChrX:38401276..38401277 [GRCh38]
ChrX:38260529..38260530 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.392T>C (p.Leu131Ser) single nucleotide variant not provided [RCV000083421] ChrX:38401280 [GRCh38]
ChrX:38260533 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.394T>C (p.Ser132Pro) single nucleotide variant not provided [RCV000083422] ChrX:38401282 [GRCh38]
ChrX:38260535 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.395C>T (p.Ser132Phe) single nucleotide variant not provided [RCV000083423] ChrX:38401283 [GRCh38]
ChrX:38260536 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV000083424] ChrX:38352699 [GRCh38]
ChrX:38211952 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.403del (p.Ala135fs) deletion Ornithine carbamoyltransferase deficiency [RCV000011751]|not provided [RCV000083425] ChrX:38401290 [GRCh38]
ChrX:38260543 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.404C>A (p.Ala135Glu) single nucleotide variant not provided [RCV000083426] ChrX:38401292 [GRCh38]
ChrX:38260545 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.407A>T (p.Asp136Val) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000990785]|not provided [RCV000083427] ChrX:38401295 [GRCh38]
ChrX:38260548 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.409G>A (p.Ala137Thr) single nucleotide variant not provided [RCV000083428] ChrX:38401297 [GRCh38]
ChrX:38260550 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.42del (p.Phe14fs) deletion not provided [RCV000083429] ChrX:38352735 [GRCh38]
ChrX:38211988 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.416T>C (p.Leu139Ser) single nucleotide variant not provided [RCV000083430] ChrX:38401304 [GRCh38]
ChrX:38260557 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.418G>C (p.Ala140Pro) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000587672]|not provided [RCV000083431] ChrX:38401306 [GRCh38]
ChrX:38260559 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000531.6(OTC):c.421C>G (p.Arg141Gly) single nucleotide variant not provided [RCV000083432] ChrX:38401309 [GRCh38]
ChrX:38260562 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.422G>C (p.Arg141Pro) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000990786]|not provided [RCV000083435] ChrX:38401310 [GRCh38]
ChrX:38260563 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000531.6(OTC):c.425T>A (p.Val142Glu) single nucleotide variant not provided [RCV000083436] ChrX:38401313 [GRCh38]
ChrX:38260566 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.430A>T (p.Lys144Ter) single nucleotide variant not provided [RCV000083437] ChrX:38401318 [GRCh38]
ChrX:38260571 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.437C>G (p.Ser146Ter) single nucleotide variant not provided [RCV000083438] ChrX:38401325 [GRCh38]
ChrX:38260578 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.443T>C (p.Leu148Ser) single nucleotide variant not provided [RCV000083439] ChrX:38401331 [GRCh38]
ChrX:38260584 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.443T>G (p.Leu148Trp) single nucleotide variant not provided [RCV000083440] ChrX:38401331 [GRCh38]
ChrX:38260584 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.444G>T (p.Leu148Phe) single nucleotide variant not provided [RCV000083442] ChrX:38401332 [GRCh38]
ChrX:38260585 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.451del (p.Leu151fs) deletion not provided [RCV000083443] ChrX:38401337 [GRCh38]
ChrX:38260590 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.452T>G (p.Leu151Arg) single nucleotide variant not provided [RCV000083444] ChrX:38401340 [GRCh38]
ChrX:38260593 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.455C>T (p.Ala152Val) single nucleotide variant not provided [RCV000083445] ChrX:38401343 [GRCh38]
ChrX:38260596 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.463G>C (p.Ala155Pro) single nucleotide variant not provided [RCV000083447] ChrX:38401351 [GRCh38]
ChrX:38260604 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.463G>T (p.Ala155Ser) single nucleotide variant not provided [RCV000083448] ChrX:38401351 [GRCh38]
ChrX:38260604 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.464C>A (p.Ala155Glu) single nucleotide variant not provided [RCV000083449] ChrX:38401352 [GRCh38]
ChrX:38260605 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.476T>C (p.Ile159Thr) single nucleotide variant not provided [RCV000083450] ChrX:38401364 [GRCh38]
ChrX:38260617 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.479T>A (p.Ile160Asn) single nucleotide variant not provided [RCV000083451] ChrX:38401367 [GRCh38]
ChrX:38260620 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.479T>C (p.Ile160Thr) single nucleotide variant not provided [RCV000083452] ChrX:38401367 [GRCh38]
ChrX:38260620 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.479T>G (p.Ile160Ser) single nucleotide variant not provided [RCV000083453] ChrX:38401367 [GRCh38]
ChrX:38260620 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.481A>G (p.Asn161Asp) single nucleotide variant not provided [RCV000083454] ChrX:38401369 [GRCh38]
ChrX:38260622 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.482A>G (p.Asn161Ser) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000793302]|not provided [RCV000083455] ChrX:38401370 [GRCh38]
ChrX:38260623 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.484G>C (p.Gly162Arg) single nucleotide variant not provided [RCV000083457] ChrX:38401372 [GRCh38]
ChrX:38260625 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.485G>A (p.Gly162Glu) single nucleotide variant not provided [RCV000083458] ChrX:38401373 [GRCh38]
ChrX:38260626 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.490T>C (p.Ser164Pro) single nucleotide variant not provided [RCV000083459] ChrX:38401378 [GRCh38]
ChrX:38260631 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.491C>G (p.Ser164Ter) single nucleotide variant not provided [RCV000083460] ChrX:38401379 [GRCh38]
ChrX:38260632 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.493G>T (p.Asp165Tyr) single nucleotide variant not provided [RCV000083461] ChrX:38401381 [GRCh38]
ChrX:38260634 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.501C>A (p.Tyr167Ter) single nucleotide variant not provided [RCV000083462] ChrX:38401389 [GRCh38]
ChrX:38260642 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.501C>G (p.Tyr167Ter) single nucleotide variant not provided [RCV000083463] ChrX:38401389 [GRCh38]
ChrX:38260642 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.503A>C (p.His168Pro) single nucleotide variant not provided [RCV000083464] ChrX:38401391 [GRCh38]
ChrX:38260644 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.503A>G (p.His168Arg) single nucleotide variant not provided [RCV000083465] ChrX:38401391 [GRCh38]
ChrX:38260644 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.504T>A (p.His168Gln) single nucleotide variant not provided [RCV000083466] ChrX:38401392 [GRCh38]
ChrX:38260645 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.505C>G (p.Pro169Ala) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000813314]|not provided [RCV000083467] ChrX:38401393 [GRCh38]
ChrX:38260646 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000531.6(OTC):c.506C>T (p.Pro169Leu) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000990789]|not provided [RCV000083468] ChrX:38401394 [GRCh38]
ChrX:38260647 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.514A>T (p.Ile172Phe) single nucleotide variant not provided [RCV000083469] ChrX:38401402 [GRCh38]
ChrX:38260655 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.516C>G (p.Ile172Met) single nucleotide variant not provided [RCV000083470] ChrX:38401404 [GRCh38]
ChrX:38260657 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.520G>C (p.Ala174Pro) single nucleotide variant not provided [RCV000083471] ChrX:38401408 [GRCh38]
ChrX:38260661 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.524A>G (p.Asp175Gly) single nucleotide variant not provided [RCV000083472] ChrX:38401412 [GRCh38]
ChrX:38260665 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.524A>T (p.Asp175Val) single nucleotide variant not provided [RCV000083473] ChrX:38401412 [GRCh38]
ChrX:38260665 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.526T>C (p.Tyr176His) single nucleotide variant not provided [RCV000083474] ChrX:38401414 [GRCh38]
ChrX:38260667 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.527A>G (p.Tyr176Cys) single nucleotide variant not provided [RCV000083475] ChrX:38401415 [GRCh38]
ChrX:38260668 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.532_537del (p.Thr178_Leu179del) deletion not provided [RCV000083476] ChrX:38401417..38401422 [GRCh38]
ChrX:38260670..38260675 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.533C>T (p.Thr178Met) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001262181]|not provided [RCV000083477] ChrX:38401421 [GRCh38]
ChrX:38260674 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.536T>C (p.Leu179Pro) single nucleotide variant not provided [RCV000083478] ChrX:38401424 [GRCh38]
ChrX:38260677 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.53del (p.His18fs) deletion not provided [RCV000083479] ChrX:38352749 [GRCh38]
ChrX:38212002 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.540+1G>C single nucleotide variant not provided [RCV000083480] ChrX:38401429 [GRCh38]
ChrX:38260682 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.540+2T>A single nucleotide variant not provided [RCV000083481] ChrX:38401430 [GRCh38]
ChrX:38260683 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.540G>C (p.Gln180His) single nucleotide variant not provided [RCV000083483] ChrX:38401428 [GRCh38]
ChrX:38260681 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.541-2A>G single nucleotide variant not provided [RCV000083484] ChrX:38403616 [GRCh38]
ChrX:38262869 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.542A>G (p.Glu181Gly) single nucleotide variant not provided [RCV000083485] ChrX:38403619 [GRCh38]
ChrX:38262872 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.545A>T (p.His182Leu) single nucleotide variant not provided [RCV000083486] ChrX:38403622 [GRCh38]
ChrX:38262875 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.547T>G (p.Tyr183Asp) single nucleotide variant not provided [RCV000083487] ChrX:38403624 [GRCh38]
ChrX:38262877 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.548A>G (p.Tyr183Cys) single nucleotide variant not provided [RCV000083488] ChrX:38403625 [GRCh38]
ChrX:38262878 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.562G>C (p.Gly188Arg) single nucleotide variant not provided [RCV000083489] ChrX:38403639 [GRCh38]
ChrX:38262892 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.563G>T (p.Gly188Val) single nucleotide variant not provided [RCV000083490] ChrX:38403640 [GRCh38]
ChrX:38262893 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.571C>T (p.Leu191Phe) single nucleotide variant not provided [RCV000083491] ChrX:38403648 [GRCh38]
ChrX:38262901 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.576C>G (p.Ser192Arg) single nucleotide variant not provided [RCV000083493] ChrX:38403653 [GRCh38]
ChrX:38262906 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.577T>C (p.Trp193Arg) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001204241]|not provided [RCV000083494] ChrX:38403654 [GRCh38]
ChrX:38262907 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000531.6(OTC):c.577T>G (p.Trp193Gly) single nucleotide variant not provided [RCV000083495] ChrX:38403654 [GRCh38]
ChrX:38262907 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.578G>A (p.Trp193Ter) single nucleotide variant not provided [RCV000083496] ChrX:38403655 [GRCh38]
ChrX:38262908 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.583G>A (p.Gly195Arg) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001232865]|not provided [RCV000083497] ChrX:38403660 [GRCh38]
ChrX:38262913 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.586del (p.Asp196fs) deletion not provided [RCV000083498] ChrX:38403660 [GRCh38]
ChrX:38262913 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.586G>A (p.Asp196Asn) single nucleotide variant not provided [RCV000083499] ChrX:38403663 [GRCh38]
ChrX:38262916 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.586G>T (p.Asp196Tyr) single nucleotide variant not provided [RCV000083500] ChrX:38403663 [GRCh38]
ChrX:38262916 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.587A>T (p.Asp196Val) single nucleotide variant not provided [RCV000083501] ChrX:38403664 [GRCh38]
ChrX:38262917 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.589G>A (p.Gly197Arg) single nucleotide variant not provided [RCV000083502] ChrX:38403666 [GRCh38]
ChrX:38262919 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.590G>A (p.Gly197Glu) single nucleotide variant not provided [RCV000083503] ChrX:38403667 [GRCh38]
ChrX:38262920 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.593A>T (p.Asn198Ile) single nucleotide variant not provided [RCV000083504] ChrX:38403670 [GRCh38]
ChrX:38262923 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.594C>A (p.Asn198Lys) single nucleotide variant not provided [RCV000083505] ChrX:38403671 [GRCh38]
ChrX:38262924 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.595A>G (p.Asn199Asp) single nucleotide variant not provided [RCV000083506] ChrX:38403672 [GRCh38]
ChrX:38262925 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.596A>G (p.Asn199Ser) single nucleotide variant not provided [RCV000083507] ChrX:38403673 [GRCh38]
ChrX:38262926 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000531.6(OTC):c.602T>C (p.Leu201Pro) single nucleotide variant not provided [RCV000083508] ChrX:38403679 [GRCh38]
ChrX:38262932 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.604C>T (p.His202Tyr) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001265563]|not provided [RCV000083509] ChrX:38403681 [GRCh38]
ChrX:38262934 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.605A>C (p.His202Pro) single nucleotide variant not provided [RCV000083510] ChrX:38403682 [GRCh38]
ChrX:38262935 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.608C>G (p.Ser203Cys) single nucleotide variant not provided [RCV000083511] ChrX:38403685 [GRCh38]
ChrX:38262938 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.613A>G (p.Met205Val) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000634843]|not provided [RCV000083512] ChrX:38403690 [GRCh38]
ChrX:38262943 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000531.6(OTC):c.618G>C (p.Met206Ile) single nucleotide variant not provided [RCV000083514] ChrX:38403695 [GRCh38]
ChrX:38262948 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.620G>A (p.Ser207Asn) single nucleotide variant not provided [RCV000083515] ChrX:38403697 [GRCh38]
ChrX:38262950 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.621C>A (p.Ser207Arg) single nucleotide variant not provided [RCV000083516] ChrX:38403698 [GRCh38]
ChrX:38262951 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.622G>A (p.Ala208Thr) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001218092]|not provided [RCV000083517] ChrX:38403699 [GRCh38]
ChrX:38262952 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.626C>T (p.Ala209Val) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000634844]|not provided [RCV000083518] ChrX:38403703 [GRCh38]
ChrX:38262956 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.628A>C (p.Lys210Gln) single nucleotide variant not provided [RCV000083519] ChrX:38403705 [GRCh38]
ChrX:38262958 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.640C>T (p.His214Tyr) single nucleotide variant not provided [RCV000083520] ChrX:38403717 [GRCh38]
ChrX:38262970 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.643C>T (p.Leu215Phe) single nucleotide variant not provided [RCV000083521] ChrX:38403720 [GRCh38]
ChrX:38262973 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.650C>A (p.Ala217Glu) single nucleotide variant not provided [RCV000083524] ChrX:38403727 [GRCh38]
ChrX:38262980 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.658C>G (p.Pro220Ala) single nucleotide variant not provided [RCV000083525] ChrX:38403735 [GRCh38]
ChrX:38262988 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.659C>T (p.Pro220Leu) single nucleotide variant not provided [RCV000083526] ChrX:38403736 [GRCh38]
ChrX:38262989 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.663+1G>A single nucleotide variant not provided [RCV000083527] ChrX:38403741 [GRCh38]
ChrX:38262994 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.663+1G>T single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000634848]|not provided [RCV000083528] ChrX:38403741 [GRCh38]
ChrX:38262994 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.663+2T>C single nucleotide variant not provided [RCV000083529] ChrX:38403742 [GRCh38]
ChrX:38262995 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.663G>A (p.Lys221=) single nucleotide variant not provided [RCV000083530] ChrX:38403740 [GRCh38]
ChrX:38262993 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.663G>C (p.Lys221Asn) single nucleotide variant not provided [RCV000083531] ChrX:38403740 [GRCh38]
ChrX:38262993 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.664-1G>A single nucleotide variant not provided [RCV000083532] ChrX:38408741 [GRCh38]
ChrX:38267994 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.5(OTC):c.664-1delG deletion not provided [RCV000083533] ChrX:38408741 [GRCh38]
ChrX:38267994 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.673C>A (p.Pro225Thr) single nucleotide variant not provided [RCV000083534] ChrX:38408751 [GRCh38]
ChrX:38268004 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.674C>G (p.Pro225Arg) single nucleotide variant not provided [RCV000083535] ChrX:38408752 [GRCh38]
ChrX:38268005 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.67C>T (p.Arg23Ter) single nucleotide variant not provided [RCV000083537] ChrX:38352763 [GRCh38]
ChrX:38212016 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.698C>T (p.Ala233Val) single nucleotide variant not provided [RCV000083538] ChrX:38408776 [GRCh38]
ChrX:38268029 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.700G>T (p.Glu234Ter) single nucleotide variant not provided [RCV000083539] ChrX:38408778 [GRCh38]
ChrX:38268031 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.716A>G (p.Glu239Gly) single nucleotide variant not provided [RCV000083540] ChrX:38408794 [GRCh38]
ChrX:38268047 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.716A>T (p.Glu239Val) single nucleotide variant not provided [RCV000083541] ChrX:38408794 [GRCh38]
ChrX:38268047 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.717+1G>A single nucleotide variant not provided [RCV000083542] ChrX:38408796 [GRCh38]
ChrX:38268049 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.717+1G>T single nucleotide variant not provided [RCV000083543] ChrX:38408796 [GRCh38]
ChrX:38268049 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.717+3A>G single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000011744]|not provided [RCV000083545] ChrX:38408798 [GRCh38]
ChrX:38268051 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.717+8_717+23del deletion not provided [RCV000083546] ChrX:38408800..38408815 [GRCh38]
ChrX:38268053..38268068 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.717G>A (p.Glu239=) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001307378]|not provided [RCV000083547] ChrX:38408795 [GRCh38]
ChrX:38268048 [GRCh37]
ChrX:Xp11.4
pathogenic|uncertain significance
NM_000531.6(OTC):c.717G>C (p.Glu239Asp) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000990790]|not provided [RCV000083548] ChrX:38408795 [GRCh38]
ChrX:38268048 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000531.6(OTC):c.718-2A>G single nucleotide variant not provided [RCV000083549] ChrX:38408874 [GRCh38]
ChrX:38268127 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.718-2_731del deletion not provided [RCV000083550] ChrX:38408871..38408886 [GRCh38]
ChrX:38268124..38268139 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.725C>T (p.Thr242Ile) single nucleotide variant not provided [RCV000083551] ChrX:38408883 [GRCh38]
ChrX:38268136 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.731T>A (p.Leu244Gln) single nucleotide variant not provided [RCV000083552] ChrX:38408889 [GRCh38]
ChrX:38268142 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.731_739del (p.Leu244_Thr247delinsPro) deletion not provided [RCV000083553] ChrX:38408889..38408897 [GRCh38]
ChrX:38268142..38268150 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.740C>A (p.Thr247Lys) single nucleotide variant not provided [RCV000083554] ChrX:38408898 [GRCh38]
ChrX:38268151 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.757G>A (p.Ala253Thr) single nucleotide variant not provided [RCV000083555] ChrX:38408915 [GRCh38]
ChrX:38268168 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.757G>C (p.Ala253Pro) single nucleotide variant not provided [RCV000083556] ChrX:38408915 [GRCh38]
ChrX:38268168 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.759del (p.Ala254fs) deletion not provided [RCV000083557] ChrX:38408917 [GRCh38]
ChrX:38268170 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.764A>C (p.His255Pro) single nucleotide variant not provided [RCV000083558] ChrX:38408922 [GRCh38]
ChrX:38268175 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.77+1G>A single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001206949]|not provided [RCV000083559] ChrX:38352774 [GRCh38]
ChrX:38212027 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.77+1G>T single nucleotide variant not provided [RCV000083560] ChrX:38352774 [GRCh38]
ChrX:38212027 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.77+3_77+6del deletion not provided [RCV000083561] ChrX:38352774..38352777 [GRCh38]
ChrX:38212027..38212030 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.77+4A>C single nucleotide variant not provided [RCV000083562] ChrX:38352777 [GRCh38]
ChrX:38212030 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.77+5G>A single nucleotide variant not provided [RCV000083563] ChrX:38352778 [GRCh38]
ChrX:38212031 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.779T>C (p.Leu260Ser) single nucleotide variant not provided [RCV000083564] ChrX:38408937 [GRCh38]
ChrX:38268190 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.77G>C (p.Arg26Pro) single nucleotide variant not provided [RCV000083566] ChrX:38352773 [GRCh38]
ChrX:38212026 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.78-1G>C single nucleotide variant not provided [RCV000083567] ChrX:38367290 [GRCh38]
ChrX:38226543 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.78-3C>G single nucleotide variant not provided [RCV000083568] ChrX:38367288 [GRCh38]
ChrX:38226541 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.785C>A (p.Thr262Lys) single nucleotide variant not provided [RCV000083569] ChrX:38408943 [GRCh38]
ChrX:38268196 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.785C>T (p.Thr262Ile) single nucleotide variant not provided [RCV000083570] ChrX:38408943 [GRCh38]
ChrX:38268196 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.787G>A (p.Asp263Asn) single nucleotide variant not provided [RCV000083571] ChrX:38408945 [GRCh38]
ChrX:38268198 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.788A>G (p.Asp263Gly) single nucleotide variant not provided [RCV000083572] ChrX:38408946 [GRCh38]
ChrX:38268199 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.790A>G (p.Thr264Ala) single nucleotide variant not provided [RCV000083573] ChrX:38408948 [GRCh38]
ChrX:38268201 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.791C>A (p.Thr264Asn) single nucleotide variant not provided [RCV000083574] ChrX:38408949 [GRCh38]
ChrX:38268202 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.791C>T (p.Thr264Ile) single nucleotide variant not provided [RCV000083575] ChrX:38408949 [GRCh38]
ChrX:38268202 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.793T>C (p.Trp265Arg) single nucleotide variant not provided [RCV000083576] ChrX:38408951 [GRCh38]
ChrX:38268204 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.794G>T (p.Trp265Leu) single nucleotide variant not provided [RCV000083577] ChrX:38408952 [GRCh38]
ChrX:38268205 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.795G>A (p.Trp265Ter) single nucleotide variant not provided [RCV000083578] ChrX:38408953 [GRCh38]
ChrX:38268206 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.799A>C (p.Ser267Arg) single nucleotide variant not provided [RCV000083579] ChrX:38408957 [GRCh38]
ChrX:38268210 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.803T>C (p.Met268Thr) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000702113]|not provided [RCV000083580] ChrX:38408961 [GRCh38]
ChrX:38268214 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.806G>A (p.Gly269Glu) single nucleotide variant not provided [RCV000083581] ChrX:38408964 [GRCh38]
ChrX:38268217 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.808C>T (p.Gln270Ter) single nucleotide variant not provided [RCV000083582] ChrX:38408966 [GRCh38]
ChrX:38268219 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.809A>C (p.Gln270Pro) single nucleotide variant not provided [RCV000083583] ChrX:38408967 [GRCh38]
ChrX:38268220 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.814_816GAG[1] (p.Glu273del) microsatellite Ornithine carbamoyltransferase deficiency [RCV000692945]|not provided [RCV000083584] ChrX:38408972..38408974 [GRCh38]
ChrX:38268225..38268227 [GRCh37]
ChrX:Xp11.4
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000531.6(OTC):c.818del (p.Glu273fs) deletion not provided [RCV000083585] ChrX:38408976 [GRCh38]
ChrX:38268229 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.830G>A (p.Arg277Gln) single nucleotide variant not provided [RCV000083587]|not specified [RCV000507904] ChrX:38408988 [GRCh38]
ChrX:38268241 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.830G>T (p.Arg277Leu) single nucleotide variant not provided [RCV000083588] ChrX:38408988 [GRCh38]
ChrX:38268241 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.835C>T (p.Gln279Ter) single nucleotide variant not provided [RCV000083589] ChrX:38408993 [GRCh38]
ChrX:38268246 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.867+1G>A single nucleotide variant not provided [RCV000083590] ChrX:38409026 [GRCh38]
ChrX:38268279 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.867+1G>T single nucleotide variant not provided [RCV000083591] ChrX:38409026 [GRCh38]
ChrX:38268279 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.867G>T (p.Lys289Asn) single nucleotide variant not provided [RCV000083592] ChrX:38409025 [GRCh38]
ChrX:38268278 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.876del (p.Val293fs) deletion not provided [RCV000083593] ChrX:38411868 [GRCh38]
ChrX:38271121 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.882del (p.Ala295fs) deletion not provided [RCV000083594] ChrX:38411876 [GRCh38]
ChrX:38271129 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.890_893del (p.Asp297fs) deletion not provided [RCV000083595] ChrX:38411881..38411884 [GRCh38]
ChrX:38271134..38271137 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.892_893del (p.Trp298fs) deletion not provided [RCV000083596] ChrX:38411886..38411887 [GRCh38]
ChrX:38271139..38271140 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.893G>C (p.Trp298Ser) single nucleotide variant not provided [RCV000083597] ChrX:38411887 [GRCh38]
ChrX:38271140 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.903A>T (p.Leu301Phe) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001228473]|not provided [RCV000083598] ChrX:38411897 [GRCh38]
ChrX:38271150 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000531.6(OTC):c.904C>T (p.His302Tyr) single nucleotide variant not provided [RCV000083599] ChrX:38411898 [GRCh38]
ChrX:38271151 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.905A>G (p.His302Arg) single nucleotide variant not provided [RCV000083600] ChrX:38411899 [GRCh38]
ChrX:38271152 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.905A>T (p.His302Leu) single nucleotide variant not provided [RCV000083601] ChrX:38411899 [GRCh38]
ChrX:38271152 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.906C>G (p.His302Gln) single nucleotide variant not provided [RCV000083602] ChrX:38411900 [GRCh38]
ChrX:38271153 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.906del (p.Cys303fs) deletion not provided [RCV000083603] ChrX:38411900 [GRCh38]
ChrX:38271153 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.907T>C (p.Cys303Arg) single nucleotide variant not provided [RCV000083604] ChrX:38411901 [GRCh38]
ChrX:38271154 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.907T>G (p.Cys303Gly) single nucleotide variant not provided [RCV000083605] ChrX:38411901 [GRCh38]
ChrX:38271154 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.908G>A (p.Cys303Tyr) single nucleotide variant not provided [RCV000083606] ChrX:38411902 [GRCh38]
ChrX:38271155 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.914C>A (p.Pro305His) single nucleotide variant not provided [RCV000083608] ChrX:38411908 [GRCh38]
ChrX:38271161 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.914C>G (p.Pro305Arg) single nucleotide variant not provided [RCV000083609] ChrX:38411908 [GRCh38]
ChrX:38271161 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.928G>T (p.Glu310Ter) single nucleotide variant not provided [RCV000083610] ChrX:38411922 [GRCh38]
ChrX:38271175 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.929A>G (p.Glu310Gly) single nucleotide variant not provided [RCV000083611] ChrX:38411923 [GRCh38]
ChrX:38271176 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.931G>A (p.Val311Met) single nucleotide variant not provided [RCV000083612] ChrX:38411925 [GRCh38]
ChrX:38271178 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.941_943del (p.Glu314del) deletion not provided [RCV000083613] ChrX:38411934..38411936 [GRCh38]
ChrX:38271187..38271189 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.943G>T (p.Val315Phe) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000590461]|not provided [RCV000083614] ChrX:38411937 [GRCh38]
ChrX:38271190 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000531.6(OTC):c.944T>A (p.Val315Asp) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000690668]|not provided [RCV000083615] ChrX:38411938 [GRCh38]
ChrX:38271191 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.944T>G (p.Val315Gly) single nucleotide variant not provided [RCV000083616] ChrX:38411938 [GRCh38]
ChrX:38271191 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.947T>C (p.Phe316Ser) single nucleotide variant not provided [RCV000083617] ChrX:38411941 [GRCh38]
ChrX:38271194 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.94C>T (p.Gln32Ter) single nucleotide variant not provided [RCV000083618] ChrX:38367307 [GRCh38]
ChrX:38226560 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.953C>T (p.Ser318Phe) single nucleotide variant not provided [RCV000083619] ChrX:38411947 [GRCh38]
ChrX:38271200 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.958C>T (p.Arg320Ter) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000547443]|not provided [RCV000083620] ChrX:38411952 [GRCh38]
ChrX:38271205 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.959G>T (p.Arg320Leu) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001039339]|not provided [RCV000083621] ChrX:38411953 [GRCh38]
ChrX:38271206 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000531.6(OTC):c.962C>A (p.Ser321Ter) single nucleotide variant not provided [RCV000083622] ChrX:38411956 [GRCh38]
ChrX:38271209 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.976G>A (p.Glu326Lys) single nucleotide variant not provided [RCV000083623] ChrX:38411970 [GRCh38]
ChrX:38271223 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.982G>T (p.Glu328Ter) single nucleotide variant not provided [RCV000083624] ChrX:38411976 [GRCh38]
ChrX:38271229 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.988A>G (p.Arg330Gly) single nucleotide variant not provided [RCV000083625] ChrX:38411982 [GRCh38]
ChrX:38271235 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000531.6(OTC):c.991A>T (p.Lys331Ter) single nucleotide variant not provided [RCV000083626] ChrX:38411985 [GRCh38]
ChrX:38271238 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.994T>A (p.Trp332Arg) single nucleotide variant not provided [RCV000083627] ChrX:38411988 [GRCh38]
ChrX:38271241 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.995G>A (p.Trp332Ter) single nucleotide variant not provided [RCV000083628] ChrX:38411989 [GRCh38]
ChrX:38271242 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.996G>A (p.Trp332Ter) single nucleotide variant not provided [RCV000083629] ChrX:38411990 [GRCh38]
ChrX:38271243 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.238A>G (p.Lys80Glu) single nucleotide variant not provided [RCV000079083] ChrX:38369817 [GRCh38]
ChrX:38229070 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.299-8T>A single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000283614]|not specified [RCV000079084] ChrX:38381334 [GRCh38]
ChrX:38240587 [GRCh37]
ChrX:Xp11.4
benign
NM_000531.6(OTC):c.540+2T>C single nucleotide variant not provided [RCV000079085] ChrX:38401430 [GRCh38]
ChrX:38260683 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.572T>G (p.Leu191Arg) single nucleotide variant not provided [RCV000079086] ChrX:38403649 [GRCh38]
ChrX:38262902 [GRCh37]
ChrX:Xp11.4
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000531.6(OTC):c.718-14T>C single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000374672]|not specified [RCV000079087] ChrX:38408862 [GRCh38]
ChrX:38268115 [GRCh37]
ChrX:Xp11.4
benign
NM_000531.6(OTC):c.808C>G (p.Gln270Glu) single nucleotide variant not provided [RCV000079088] ChrX:38408966 [GRCh38]
ChrX:38268219 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.868-3T>C single nucleotide variant not provided [RCV000079089] ChrX:38411859 [GRCh38]
ChrX:38271112 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) single nucleotide variant History of neurodevelopmental disorder [RCV000715832]|Ornithine carbamoyltransferase deficiency [RCV000335039]|not specified [RCV000117884] ChrX:38408967 [GRCh38]
ChrX:38268220 [GRCh37]
ChrX:Xp11.4
benign|likely benign|conflicting interpretations of pathogenicity
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
NM_000531.6(OTC):c.385C>T (p.Arg129Cys) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000148719] ChrX:38381428 [GRCh38]
ChrX:38240681 [GRCh37]
ChrX:Xp11.4
pathogenic|uncertain significance
NM_000531.6(OTC):c.588T>A (p.Asp196Glu) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001295432] ChrX:38403665 [GRCh38]
ChrX:38262918 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.299-8del deletion not specified [RCV000178112] ChrX:38381325 [GRCh38]
ChrX:38240587 [GRCh37]
ChrX:Xp11.4
likely pathogenic|benign
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
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 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 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 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 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 Xp22.33-11.23(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-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 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
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 Xp22.33-11.22(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-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)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
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
NM_000531.6(OTC):c.725C>A (p.Thr242Asn) single nucleotide variant not provided [RCV000153627] ChrX:38408883 [GRCh38]
ChrX:38268136 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.5(OTC):c.78-14A>G single nucleotide variant not specified [RCV000186066] ChrX:38367277 [GRCh38]
ChrX:38226530 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.-4G>A single nucleotide variant not provided [RCV000186069] ChrX:38352693 [GRCh38]
ChrX:38211946 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.870T>C (p.Thr290=) single nucleotide variant not provided [RCV000180515] ChrX:38411864 [GRCh38]
ChrX:38271117 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000531.6(OTC):c.72_77+18del deletion Ornithine carbamoyltransferase deficiency [RCV000201257] ChrX:38352767..38352790 [GRCh38]
ChrX:38212020..38212043 [GRCh37]
ChrX:Xp11.4
pathogenic|uncertain significance
NM_000531.6(OTC):c.615G>C (p.Met205Ile) single nucleotide variant not provided [RCV000186067] ChrX:38403692 [GRCh38]
ChrX:38262945 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000531.6(OTC):c.919A>G (p.Lys307Glu) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001257236]|not provided [RCV000186068] ChrX:38411913 [GRCh38]
ChrX:38271166 [GRCh37]
ChrX:Xp11.4
pathogenic|uncertain significance
NM_000531.6(OTC):c.217-2dup duplication not provided [RCV000186070] ChrX:38369793..38369794 [GRCh38]
ChrX:38229046..38229047 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.562_563del (p.Gly188fs) deletion not provided [RCV000186071] ChrX:38403639..38403640 [GRCh38]
ChrX:38262892..38262893 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic|likely benign|uncertain significance
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
NM_000531.6(OTC):c.494A>G (p.Asp165Gly) single nucleotide variant not provided [RCV000519095] ChrX:38401382 [GRCh38]
ChrX:38260635 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000531.6(OTC):c.254T>C (p.Ile85Thr) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000225005] ChrX:38369833 [GRCh38]
ChrX:38229086 [GRCh37]
ChrX:Xp11.4
pathogenic|likely 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: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
NM_000531.6(OTC):c.953_955CTC[1] (p.Pro319del) microsatellite Inborn genetic diseases [RCV000622323]|Ornithine carbamoyltransferase deficiency [RCV001203810] ChrX:38411947..38411949 [GRCh38]
ChrX:38271200..38271202 [GRCh37]
ChrX:Xp11.4
uncertain significance
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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000531.6(OTC):c.663+50A>G single nucleotide variant not specified [RCV000246168] ChrX:38403790 [GRCh38]
ChrX:38263043 [GRCh37]
ChrX:Xp11.4
benign
NM_000531.6(OTC):c.299-34dup duplication not specified [RCV000246262] ChrX:38381302..38381303 [GRCh38]
ChrX:38240555..38240556 [GRCh37]
ChrX:Xp11.4
likely benign
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
NM_000531.6(OTC):c.867+35T>G single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001000281]|not specified [RCV000247322] ChrX:38409060 [GRCh38]
ChrX:38268313 [GRCh37]
ChrX:Xp11.4
benign
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000531.6(OTC):c.429T>C (p.Tyr143=) single nucleotide variant History of neurodevelopmental disorder [RCV000715595]|Ornithine carbamoyltransferase deficiency [RCV000872419]|not specified [RCV000242781] ChrX:38401317 [GRCh38]
ChrX:38260570 [GRCh37]
ChrX:Xp11.4
benign
NM_000531.6(OTC):c.299-18C>T single nucleotide variant not specified [RCV000253036] ChrX:38381324 [GRCh38]
ChrX:38240577 [GRCh37]
ChrX:Xp11.4
pathogenic|benign
NM_000531.6(OTC):c.382G>C (p.Ala128Pro) single nucleotide variant not provided [RCV000315162] ChrX:38381425 [GRCh38]
ChrX:38240678 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.216+1del deletion not provided [RCV000343069] ChrX:38367429 [GRCh38]
ChrX:38226682 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.122A>T (p.Asp41Val) single nucleotide variant not provided [RCV000324897] ChrX:38367335 [GRCh38]
ChrX:38226588 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.751T>C (p.Leu251=) single nucleotide variant History of neurodevelopmental disorder [RCV000718707]|Ornithine carbamoyltransferase deficiency [RCV000279943]|not specified [RCV000420359] ChrX:38408909 [GRCh38]
ChrX:38268162 [GRCh37]
ChrX:Xp11.4
benign|likely benign|conflicting interpretations of pathogenicity
NM_000531.6(OTC):c.626C>G (p.Ala209Gly) single nucleotide variant not provided [RCV000489120] ChrX:38403703 [GRCh38]
ChrX:38262956 [GRCh37]
ChrX:Xp11.4
uncertain significance
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
NM_000531.6(OTC):c.520G>A (p.Ala174Thr) single nucleotide variant not provided [RCV000756452] ChrX:38401408 [GRCh38]
ChrX:38260661 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.76C>T (p.Arg26Trp) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000363211]|not provided [RCV000589394] ChrX:38352772 [GRCh38]
ChrX:38212025 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.*106G>A single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000295066] ChrX:38421188 [GRCh38]
ChrX:38280441 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_000531.6(OTC):c.*276A>G single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000350272] ChrX:38421358 [GRCh38]
ChrX:38280611 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.540+1G>T single nucleotide variant not provided [RCV000521373] ChrX:38401429 [GRCh38]
ChrX:38260682 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.621C>T (p.Ser207=) single nucleotide variant History of neurodevelopmental disorder [RCV000719592]|Ornithine carbamoyltransferase deficiency [RCV000320040] ChrX:38403698 [GRCh38]
ChrX:38262951 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_000531.6(OTC):c.*105C>T single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000407760] ChrX:38421187 [GRCh38]
ChrX:38280440 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.216+9C>T single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000323606]|not provided [RCV000841292] ChrX:38367438 [GRCh38]
ChrX:38226691 [GRCh37]
ChrX:Xp11.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000531.6(OTC):c.-48G>T single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000327225] ChrX:38352649 [GRCh38]
ChrX:38211902 [GRCh37]
ChrX:Xp11.4
benign|likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000531.6(OTC):c.217-2A>G single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001170079] ChrX:38369794 [GRCh38]
ChrX:38229047 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.608C>T (p.Ser203Phe) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001089878]|not provided [RCV000590045] ChrX:38403685 [GRCh38]
ChrX:38262938 [GRCh37]
ChrX:Xp11.4
pathogenic|uncertain significance
NM_000531.6(OTC):c.298+2T>G single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001049435]|not provided [RCV000523661] ChrX:38369879 [GRCh38]
ChrX:38229132 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.433C>A (p.Gln145Lys) single nucleotide variant not provided [RCV000757583] ChrX:38401321 [GRCh38]
ChrX:38260574 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.391_397dup (p.Ser133delinsIleValTer) duplication not provided [RCV000733448] ChrX:38401276..38401277 [GRCh38]
ChrX:38260529..38260530 [GRCh37]
ChrX:Xp11.4
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
NM_000531.6(OTC):c.354G>A (p.Leu118=) single nucleotide variant not provided [RCV000414106] ChrX:38381397 [GRCh38]
ChrX:38240650 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.470T>C (p.Ile157Thr) single nucleotide variant not provided [RCV000729476] ChrX:38401358 [GRCh38]
ChrX:38260611 [GRCh37]
ChrX:Xp11.4
uncertain significance
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:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000531.6(OTC):c.717+11T>C single nucleotide variant not specified [RCV000420846] ChrX:38408806 [GRCh38]
ChrX:38268059 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000531.6(OTC):c.114G>A (p.Lys38=) single nucleotide variant not specified [RCV000434744] ChrX:38367327 [GRCh38]
ChrX:38226580 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000531.6(OTC):c.87A>G (p.Gln29=) single nucleotide variant not specified [RCV000442600] ChrX:38367300 [GRCh38]
ChrX:38226553 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000531.6(OTC):c.-365G>A single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001274394]|not specified [RCV000428594] ChrX:38352332 [GRCh38]
ChrX:38211585 [GRCh37]
ChrX:Xp11.4
benign
NM_000531.6(OTC):c.298+9A>G single nucleotide variant not specified [RCV000419787] ChrX:38369886 [GRCh38]
ChrX:38229139 [GRCh37]
ChrX:Xp11.4
likely benign
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(chrX:38135974-38957292)x1 copy number loss See cases [RCV000447940] ChrX:38135974..38957292 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.868-2A>T single nucleotide variant not provided [RCV000480612] ChrX:38411860 [GRCh38]
ChrX:38271113 [GRCh37]
ChrX:Xp11.4
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
NM_000531.6(OTC):c.634G>T (p.Gly212Ter) single nucleotide variant not provided [RCV000486937] ChrX:38403711 [GRCh38]
ChrX:38262964 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp21.1-11.4(chrX:37584811-38467647)x2 copy number gain See cases [RCV000510479] ChrX:37584811..38467647 [GRCh37]
ChrX:Xp21.1-11.4
uncertain significance
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
NM_000531.6(OTC):c.365A>G (p.Glu122Gly) single nucleotide variant not provided [RCV000494134] ChrX:38381408 [GRCh38]
ChrX:38240661 [GRCh37]
ChrX:Xp11.4
likely 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 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000531.6(OTC):c.673C>T (p.Pro225Ser) single nucleotide variant not provided [RCV000493220] ChrX:38408751 [GRCh38]
ChrX:38268004 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_000531.6(OTC):c.517C>G (p.Leu173Val) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000495847] ChrX:38401405 [GRCh38]
ChrX:38260658 [GRCh37]
ChrX:Xp11.4
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_000531.6(OTC):c.540+264C>T single nucleotide variant not specified [RCV000604194] ChrX:38401692 [GRCh38]
ChrX:38260945 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000531.6(OTC):c.360G>A (p.Val120=) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000634841] ChrX:38381403 [GRCh38]
ChrX:38240656 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000531.6(OTC):c.452T>C (p.Leu151Pro) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000634842] ChrX:38401340 [GRCh38]
ChrX:38260593 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.228A>C (p.Leu76Phe) single nucleotide variant not provided [RCV000597047] ChrX:38369807 [GRCh38]
ChrX:38229060 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000531.5(OTC):c.-157T>G single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000627037] ChrX:38352540 [GRCh38]
ChrX:38211793 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000531.5(OTC):c.-139A>G single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000627033] ChrX:38352558 [GRCh38]
ChrX:38211811 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000531.5(OTC):c.-142G>A single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000627034] ChrX:38352555 [GRCh38]
ChrX:38211808 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000531.5(OTC):c.-441A>G single nucleotide variant not specified [RCV000615335] ChrX:38352256 [GRCh38]
ChrX:38211509 [GRCh37]
ChrX:Xp11.4
benign
NM_000531.6(OTC):c.-359G>A single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001274395]|not specified [RCV000612706] ChrX:38352338 [GRCh38]
ChrX:38211591 [GRCh37]
ChrX:Xp11.4
benign
NM_000531.5(OTC):c.-366A>G single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000634849]|not specified [RCV000616225] ChrX:38352331 [GRCh38]
ChrX:38211584 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_000531.6(OTC):c.541-11G>A single nucleotide variant not specified [RCV000616843] ChrX:38403607 [GRCh38]
ChrX:38262860 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000531.6(OTC):c.77+9T>A single nucleotide variant not specified [RCV000608456] ChrX:38352782 [GRCh38]
ChrX:38212035 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000531.5(OTC):c.-116C>T single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000627035] ChrX:38352581 [GRCh38]
ChrX:38211834 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000531.6(OTC):c.762G>T (p.Ala254=) single nucleotide variant not specified [RCV000614829] ChrX:38408920 [GRCh38]
ChrX:38268173 [GRCh37]
ChrX:Xp11.4
likely benign
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
NM_000531.6(OTC):c.1005+11A>T single nucleotide variant Global developmental delay [RCV000626697]|Ornithine carbamoyltransferase deficiency [RCV001195864] ChrX:38412010 [GRCh38]
ChrX:38271263 [GRCh37]
ChrX:Xp11.4
uncertain significance
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
NM_000531.6(OTC):c.-106C>A single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000627032]|not provided [RCV000757584] ChrX:38352591 [GRCh38]
ChrX:38211844 [GRCh37]
ChrX:Xp11.4
likely pathogenic|uncertain significance
NM_000531.5(OTC):c.-115C>T single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000627036] ChrX:38352582 [GRCh38]
ChrX:38211835 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000531.6(OTC):c.298+2dup duplication Ornithine carbamoyltransferase deficiency [RCV000634845] ChrX:38369878..38369879 [GRCh38]
ChrX:38229131..38229132 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.593A>G (p.Asn198Ser) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000634847] ChrX:38403670 [GRCh38]
ChrX:38262923 [GRCh37]
ChrX:Xp11.4
uncertain significance
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 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
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
NM_000531.6(OTC):c.77+2dup duplication Ornithine carbamoyltransferase deficiency [RCV000687328] ChrX:38352774..38352775 [GRCh38]
ChrX:38212027..38212028 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000531.6(OTC):c.941A>C (p.Glu314Ala) single nucleotide variant History of neurodevelopmental disorder [RCV000717125]|Ornithine carbamoyltransferase deficiency [RCV001276384] ChrX:38411935 [GRCh38]
ChrX:38271188 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.307C>T (p.Leu103Phe) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000702230] ChrX:38381350 [GRCh38]
ChrX:38240603 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.11:g.(?_38381322)_(38413090_?)del deletion Ornithine carbamoyltransferase deficiency [RCV000707743] ChrX:38381322..38413090 [GRCh38]
ChrX:38240575..38272343 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.867+1126A>G single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000692422] ChrX:38410151 [GRCh38]
ChrX:38269404 [GRCh37]
ChrX:Xp11.4
likely pathogenic|uncertain significance
NC_000023.11:g.(?_38401255)_(38401693_?)del deletion Ornithine carbamoyltransferase deficiency [RCV000708357] ChrX:38401255..38401693 [GRCh38]
ChrX:38260508..38260946 [GRCh37]
ChrX:Xp11.4
pathogenic
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
NM_000531.6(OTC):c.272C>T (p.Thr91Ile) single nucleotide variant History of neurodevelopmental disorder [RCV000718682] ChrX:38369851 [GRCh38]
ChrX:38229104 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.270T>C (p.Ser90=) single nucleotide variant History of neurodevelopmental disorder [RCV000719375] ChrX:38369849 [GRCh38]
ChrX:38229102 [GRCh37]
ChrX:Xp11.4
likely benign
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-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
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 duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_000531.6(OTC):c.375G>A (p.Thr125=) single nucleotide variant not provided [RCV000938789] ChrX:38381418 [GRCh38]
ChrX:38240671 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000531.6(OTC):c.961T>C (p.Ser321Pro) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000761321] ChrX:38411955 [GRCh38]
ChrX:38271208 [GRCh37]
ChrX:Xp11.4
likely 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_000531.6(OTC):c.534G>A (p.Thr178=) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000902764] ChrX:38401422 [GRCh38]
ChrX:38260675 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000531.6(OTC):c.1019C>T (p.Ser340Phe) single nucleotide variant not provided [RCV000756453] ChrX:38421036 [GRCh38]
ChrX:38280289 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.6G>C (p.Leu2=) single nucleotide variant not provided [RCV000929074] ChrX:38352702 [GRCh38]
ChrX:38211955 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000531.6(OTC):c.298+3_298+6del deletion Ornithine carbamoyltransferase deficiency [RCV001037257] ChrX:38369878..38369881 [GRCh38]
ChrX:38229131..38229134 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.11:g.(?_38367271)_(38367449_?)del deletion Ornithine carbamoyltransferase deficiency [RCV001032460] ChrX:38226524..38226702 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.83G>A (p.Gly28Glu) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001057159] ChrX:38367296 [GRCh38]
ChrX:38226549 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.327T>A (p.Cys109Ter) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001089871] ChrX:38381370 [GRCh38]
ChrX:38240623 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.1009G>T (p.Val337Phe) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001089876] ChrX:38421026 [GRCh38]
ChrX:38280279 [GRCh37]
ChrX:Xp11.4
pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_000531.6(OTC):c.582C>T (p.Ile194=) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000876235] ChrX:38403659 [GRCh38]
ChrX:38262912 [GRCh37]
ChrX:Xp11.4
benign
NM_000531.6(OTC):c.663+7A>C single nucleotide variant not provided [RCV000980480] ChrX:38403747 [GRCh38]
ChrX:38263000 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000531.6(OTC):c.105G>A (p.Val35=) single nucleotide variant not provided [RCV000944472] ChrX:38367318 [GRCh38]
ChrX:38226571 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000531.6(OTC):c.609C>T (p.Ser203=) single nucleotide variant not provided [RCV000977344] ChrX:38403686 [GRCh38]
ChrX:38262939 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000531.6(OTC):c.541-8C>T single nucleotide variant not provided [RCV000916578] ChrX:38403610 [GRCh38]
ChrX:38262863 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000531.6(OTC):c.299-5T>C single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000977578] ChrX:38381337 [GRCh38]
ChrX:38240590 [GRCh37]
ChrX:Xp11.4
likely benign
NC_000023.11:g.38367438C>T single nucleotide variant not provided [RCV000841292] ChrX:38226691 [GRCh37]
ChrX:Xp11.4
likely 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
NC_000023.11:g.38352036C>T single nucleotide variant not provided [RCV000840501] ChrX:38352036 [GRCh38]
ChrX:38211289 [GRCh37]
ChrX:Xp11.4
benign
NM_000531.6(OTC):c.541-305A>G single nucleotide variant not provided [RCV000840502] ChrX:38403313 [GRCh38]
ChrX:38262566 [GRCh37]
ChrX:Xp11.4
benign
NC_000023.11:g.38352051G>A single nucleotide variant not provided [RCV000840503] ChrX:38352051 [GRCh38]
ChrX:38211304 [GRCh37]
ChrX:Xp11.4
benign
NM_000531.6(OTC):c.664-220G>A single nucleotide variant not provided [RCV000840520] ChrX:38408522 [GRCh38]
ChrX:38267775 [GRCh37]
ChrX:Xp11.4
benign
NM_000531.6(OTC):c.78-233G>C single nucleotide variant not provided [RCV000840790] ChrX:38367058 [GRCh38]
ChrX:38226311 [GRCh37]
ChrX:Xp11.4
benign
NM_000531.6(OTC):c.974C>T (p.Pro325Leu) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000990791] ChrX:38411968 [GRCh38]
ChrX:38271221 [GRCh37]
ChrX:Xp11.4
pathogenic|uncertain significance
NM_000531.6(OTC):c.819G>A (p.Glu273=) single nucleotide variant not provided [RCV000975539] ChrX:38408977 [GRCh38]
ChrX:38268230 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000531.6(OTC):c.541-63G>A single nucleotide variant not provided [RCV000835564] ChrX:38403555 [GRCh38]
ChrX:38262808 [GRCh37]
ChrX:Xp11.4
benign
NM_000531.6(OTC):c.1005+941T>C single nucleotide variant not provided [RCV000840504] ChrX:38412940 [GRCh38]
ChrX:38272193 [GRCh37]
ChrX:Xp11.4
benign
NC_000023.11:g.(?_38269606)_(38421102_?)del deletion Primary ciliary dyskinesia [RCV001031696] ChrX:38128859..38280355 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.116G>A (p.Gly39Asp) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000810594]|not specified [RCV001201208] ChrX:38367329 [GRCh38]
ChrX:38226582 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.298+1del deletion Ornithine carbamoyltransferase deficiency [RCV001090186] ChrX:38369877 [GRCh38]
ChrX:38229130 [GRCh37]
ChrX:Xp11.4
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
NM_000531.6(OTC):c.*175T>C single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001168192] ChrX:38421257 [GRCh38]
ChrX:38280510 [GRCh37]
ChrX:Xp11.4
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_000531.6(OTC):c.1005+1133A>G single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001276385]|not provided [RCV000834932] ChrX:38413132 [GRCh38]
ChrX:38272385 [GRCh37]
ChrX:Xp11.4
benign
NM_000531.6(OTC):c.867+1061G>T single nucleotide variant not provided [RCV000838502] ChrX:38410086 [GRCh38]
ChrX:38269339 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000531.6(OTC):c.814G>A (p.Glu272Lys) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001167557] ChrX:38408972 [GRCh38]
ChrX:38268225 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.116G>C (p.Gly39Ala) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001170078] ChrX:38367329 [GRCh38]
ChrX:38226582 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.396T>C (p.Ser132=) single nucleotide variant not provided [RCV000975471] ChrX:38401284 [GRCh38]
ChrX:38260537 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000531.6(OTC):c.1028C>G (p.Thr343Arg) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001066217] ChrX:38421045 [GRCh38]
ChrX:38280298 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.5:c.(386+1_387-1)_(1005+1_1006-1)del deletion Ornithine carbamoyltransferase deficiency [RCV001201166]   pathogenic
NM_000531.6(OTC):c.845A>G (p.Gln282Arg) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001196496] ChrX:38409003 [GRCh38]
ChrX:38268256 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.143_144del (p.Phe48fs) deletion not provided [RCV001171571] ChrX:38367355..38367356 [GRCh38]
ChrX:38226608..38226609 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000531.6(OTC):c.493G>C (p.Asp165His) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000990788] ChrX:38401381 [GRCh38]
ChrX:38260634 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000531.6(OTC):c.749dup (p.Leu251fs) duplication Ornithine carbamoyltransferase deficiency [RCV001240580] ChrX:38408905..38408906 [GRCh38]
ChrX:38268158..38268159 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp11.4(chrX:38056276-40565244)x3 copy number gain not provided [RCV000845673] ChrX:38056276..40565244 [GRCh37]
ChrX:Xp11.4
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_000531.6(OTC):c.604C>G (p.His202Asp) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001221148] ChrX:38403681 [GRCh38]
ChrX:38262934 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.403G>C (p.Ala135Pro) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001240472] ChrX:38401291 [GRCh38]
ChrX:38260544 [GRCh37]
ChrX:Xp11.4
likely pathogenic|uncertain significance
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
NM_000531.6(OTC):c.491C>T (p.Ser164Leu) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000990787] ChrX:38401379 [GRCh38]
ChrX:38260632 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000531.6(OTC):c.709_712delinsCCT (p.Ala237fs) indel not provided [RCV001009193] ChrX:38408787..38408790 [GRCh38]
ChrX:38268040..38268043 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000531.6(OTC):c.860_861dup (p.Met288fs) duplication Ornithine carbamoyltransferase deficiency [RCV001192544] ChrX:38409016..38409017 [GRCh38]
ChrX:38268269..38268270 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000531.6(OTC):c.642C>T (p.His214=) single nucleotide variant not provided [RCV000931978] ChrX:38403719 [GRCh38]
ChrX:38262972 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000531.6(OTC):c.762G>A (p.Ala254=) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000931303] ChrX:38408920 [GRCh38]
ChrX:38268173 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000531.6(OTC):c.390A>G (p.Val130=) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000908868] ChrX:38401278 [GRCh38]
ChrX:38260531 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000531.6(OTC):c.128T>C (p.Leu43Pro) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001201344] ChrX:38367341 [GRCh38]
ChrX:38226594 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.780_781delinsG (p.Ile261fs) indel Ornithine carbamoyltransferase deficiency [RCV001240275] ChrX:38408938..38408939 [GRCh38]
ChrX:38268191..38268192 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.401T>C (p.Met134Thr) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001224831] ChrX:38401289 [GRCh38]
ChrX:38260542 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.626C>A (p.Ala209Glu) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001227742] ChrX:38403703 [GRCh38]
ChrX:38262956 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.177dup (p.Ser60fs) duplication Ornithine carbamoyltransferase deficiency [RCV001238450] ChrX:38367389..38367390 [GRCh38]
ChrX:38226642..38226643 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.617T>A (p.Met206Lys) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001244170] ChrX:38403694 [GRCh38]
ChrX:38262947 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000531.6(OTC):c.372C>T (p.Leu124=) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000911253] ChrX:38381415 [GRCh38]
ChrX:38240668 [GRCh37]
ChrX:Xp11.4
likely benign
NM_000531.6(OTC):c.387-1G>A single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV000990784] ChrX:38401274 [GRCh38]
ChrX:38260527 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.614T>A (p.Met205Lys) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001070203] ChrX:38403691 [GRCh38]
ChrX:38262944 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.896C>T (p.Thr299Ile) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001167558] ChrX:38411890 [GRCh38]
ChrX:38271143 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.652G>C (p.Ala218Pro) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001089859] ChrX:38403729 [GRCh38]
ChrX:38262982 [GRCh37]
ChrX:Xp11.4
pathogenic|uncertain significance
NM_000531.6(OTC):c.635G>T (p.Gly212Val) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001089860] ChrX:38403712 [GRCh38]
ChrX:38262965 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.584G>C (p.Gly195Ala) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001089861] ChrX:38403661 [GRCh38]
ChrX:38262914 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.473C>T (p.Pro158Leu) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001089866] ChrX:38401361 [GRCh38]
ChrX:38260614 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.766G>T (p.Gly256Ter) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001089870] ChrX:38408924 [GRCh38]
ChrX:38268177 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.946T>G (p.Phe316Val) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001089875] ChrX:38411940 [GRCh38]
ChrX:38271193 [GRCh37]
ChrX:Xp11.4
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
NM_000531.6(OTC):c.1052del (p.Lys351fs) deletion Ornithine carbamoyltransferase deficiency [RCV001170077] ChrX:38421068 [GRCh38]
ChrX:38280321 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.485G>T (p.Gly162Val) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001069139] ChrX:38401373 [GRCh38]
ChrX:38260626 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.874A>G (p.Lys292Glu) single nucleotide variant not provided [RCV001092675] ChrX:38411868 [GRCh38]
ChrX:38271121 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.944T>C (p.Val315Ala) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001089874] ChrX:38411938 [GRCh38]
ChrX:38271191 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.1015G>A (p.Val339Met) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001089877] ChrX:38421032 [GRCh38]
ChrX:38280285 [GRCh37]
ChrX:Xp11.4
pathogenic
NC_000023.11:g.(?_37780009)_(38421102_?)del deletion Chronic granulomatous disease, X-linked [RCV001033901] ChrX:37639262..38280355 [GRCh37]
ChrX:Xp11.4
pathogenic
NC_000023.10:g.(?_30326313)_(41000684_?)del deletion Ornithine carbamoyltransferase deficiency [RCV001033914] ChrX:30326313..41000684 [GRCh37]
ChrX:Xp21.2-11.4
pathogenic
NC_000023.11:g.(?_38352331)_(38352793_?)del deletion Ornithine carbamoyltransferase deficiency [RCV001031170] ChrX:38211584..38212046 [GRCh37]
ChrX:Xp11.4
pathogenic
NC_000023.11:g.(?_38352331)_(38352793_?)dup duplication Ornithine carbamoyltransferase deficiency [RCV001031713] ChrX:38211584..38212046 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.530T>G (p.Leu177Arg) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001207344] ChrX:38401418 [GRCh38]
ChrX:38260671 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.286T>C (p.Ser96Pro) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001233433] ChrX:38369865 [GRCh38]
ChrX:38229118 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.5:c.-142G>A single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001035386]   likely pathogenic
NM_000531.6(OTC):c.523G>A (p.Asp175Asn) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001212560] ChrX:38401411 [GRCh38]
ChrX:38260664 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.425T>G (p.Val142Gly) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001202129] ChrX:38401313 [GRCh38]
ChrX:38260566 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.216+10A>G single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001165989] ChrX:38367439 [GRCh38]
ChrX:38226692 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.264AAG[1] (p.Arg89del) microsatellite Ornithine carbamoyltransferase deficiency [RCV001230918] ChrX:38369843..38369845 [GRCh38]
ChrX:38229096..38229098 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.1025T>C (p.Leu342Pro) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001213385] ChrX:38421042 [GRCh38]
ChrX:38280295 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.85C>G (p.Gln29Glu) single nucleotide variant not specified [RCV001249000] ChrX:38367298 [GRCh38]
ChrX:38226551 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.488T>G (p.Leu163Arg) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001089862] ChrX:38401376 [GRCh38]
ChrX:38260629 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.298G>T (p.Gly100Cys) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001089867] ChrX:38369877 [GRCh38]
ChrX:38229130 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.214G>A (p.Glu72Lys) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001089868] ChrX:38367427 [GRCh38]
ChrX:38226680 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.77+5G>C single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001089869] ChrX:38352778 [GRCh38]
ChrX:38212031 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.568dup (p.Thr190fs) duplication Ornithine carbamoyltransferase deficiency [RCV001089872] ChrX:38403644..38403645 [GRCh38]
ChrX:38262897..38262898 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.740C>G (p.Thr247Arg) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001089873] ChrX:38408898 [GRCh38]
ChrX:38268151 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.535C>T (p.Leu179Phe) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001042147] ChrX:38401423 [GRCh38]
ChrX:38260676 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_000531.6(OTC):c.959G>C (p.Arg320Pro) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001203914] ChrX:38411953 [GRCh38]
ChrX:38271206 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_000531.6(OTC):c.926_928AAG[1] (p.Glu310del) microsatellite Ornithine carbamoyltransferase deficiency [RCV001063805] ChrX:38411918..38411920 [GRCh38]
ChrX:38271171..38271173 [GRCh37]
ChrX:Xp11.4
uncertain significance
Single allele deletion Retinitis pigmentosa 15 [RCV001251576] ChrX:35820200..38547007 [GRCh37]
ChrX:Xp21.1-11.4
pathogenic
NM_000531.6(OTC):c.844del (p.Gln282fs) deletion Ornithine carbamoyltransferase deficiency [RCV001293623] ChrX:38409001 [GRCh38]
ChrX:38268254 [GRCh37]
ChrX:Xp11.4
likely 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 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 Xp21.1-11.4(chrX:37487291-38568933)x3 copy number gain not provided [RCV001258967] ChrX:37487291..38568933 [GRCh37]
ChrX:Xp21.1-11.4
uncertain significance
NM_000531.6(OTC):c.1020_1028del (p.Leu341_Thr343del) deletion Ornithine carbamoyltransferase deficiency [RCV001341663] ChrX:38421036..38421044 [GRCh38]
ChrX:38280289..38280297 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.731T>C (p.Leu244Pro) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001329969] ChrX:38408889 [GRCh38]
ChrX:38268142 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.473C>G (p.Pro158Arg) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001339893] ChrX:38401361 [GRCh38]
ChrX:38260614 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.774T>A (p.Asn258Lys) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001320542] ChrX:38408932 [GRCh38]
ChrX:38268185 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.629A>C (p.Lys210Thr) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001337278] ChrX:38403706 [GRCh38]
ChrX:38262959 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_000531.6(OTC):c.530T>C (p.Leu177Pro) single nucleotide variant Ornithine carbamoyltransferase deficiency [RCV001343811] ChrX:38401418 [GRCh38]
ChrX:38260671 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.(?_38156517)_(38240702_?)dup duplication Primary ciliary dyskinesia [RCV001322289] ChrX:38156517..38240702 [GRCh37]
ChrX:Xp11.4
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8512 AgrOrtholog
COSMIC OTC COSMIC
Ensembl Genes ENSG00000036473 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000039007 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000496606 UniProtKB/TrEMBL
Ensembl Transcript ENST00000039007 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000643344 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.1370 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000036473 GTEx
HGNC ID HGNC:8512 ENTREZGENE
Human Proteome Map OTC Human Proteome Map
InterPro Asp/Orn_carbamoyltranf_P-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asp/Orn_carbamoylTrfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asp/Orn_carbamoylTrfase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asp_carbamoyltransf_Asp/Orn-bd UniProtKB/Swiss-Prot
  Orn/put_carbamltrans UniProtKB/Swiss-Prot
KEGG Report hsa:5009 UniProtKB/Swiss-Prot
NCBI Gene 5009 ENTREZGENE
OMIM 300461 OMIM
  311250 OMIM
Pfam OTCace UniProtKB/Swiss-Prot
  OTCace_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32840 PharmGKB
PRINTS AOTCASE UniProtKB/Swiss-Prot
  OTCASE UniProtKB/Swiss-Prot
PROSITE CARBAMOYLTRANSFERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53671 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs orni_carb_tr UniProtKB/Swiss-Prot
UniProt A0A2R8Y829_HUMAN UniProtKB/TrEMBL
  OTC_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K9P2 UniProtKB/Swiss-Prot
  D3DWB0 UniProtKB/Swiss-Prot
  Q3KNR1 UniProtKB/Swiss-Prot
  Q6B0I1 UniProtKB/Swiss-Prot
  Q9NYJ5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-11-02 OTC  ornithine transcarbamylase  OTC  ornithine carbamoyltransferase  Symbol and/or name change 19259463 PROVISIONAL