HPRT1 (hypoxanthine phosphoribosyltransferase 1) - Rat Genome Database

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Gene: HPRT1 (hypoxanthine phosphoribosyltransferase 1) Homo sapiens
Analyze
Symbol: HPRT1
Name: hypoxanthine phosphoribosyltransferase 1
RGD ID: 731296
HGNC Page HGNC
Description: Exhibits identical protein binding activity; magnesium ion binding activity; and purine phosphoribosyltransferase activity. Involved in nucleobase-containing small molecule metabolic process; positive regulation of dopamine metabolic process; and protein homotetramerization. Localizes to cytosol. Implicated in HRPT-related hyperuricemia and Lesch-Nyhan syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: HGPRT; HGPRTase; HPRT; hypoxanthine guanine phosphoribosyl transferase; hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome); hypoxanthine-guanine phosphoribosyltransferase; hypoxanthine-guanine phosphoribosyltransferase 1; testicular tissue protein Li 89
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: HPRT1P1   HPRT1P2   HPRT1P3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX134,460,165 - 134,520,513 (+)EnsemblGRCh38hg38GRCh38
GRCh38X134,460,165 - 134,500,668 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X133,594,195 - 133,634,698 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X133,421,923 - 133,462,362 (+)NCBINCBI36hg18NCBI36
Build 34X133,319,776 - 133,360,216NCBI
CeleraX133,981,004 - 134,021,522 (+)NCBI
Cytogenetic MapXq26.2-q26.3NCBI
HuRefX122,992,617 - 123,032,595 (+)NCBIHuRef
CHM1_1X133,505,941 - 133,546,459 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-trichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-nitropyrene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,5-tetrachlorobiphenyl  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-Amino-9H-pyrido[2,3-b]indole  (EXP)
2-hydroxypropanoic acid  (EXP)
3-Amino-1-methyl-5H-pyrido[4,3-b]indole  (EXP)
3-Chloro-4-(dichloromethyl)-5-hydroxy-2(5H)-furanone  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-methyl-3H-imidazo[4,5-f]quinolin-2-amine  (ISO)
3-phenylprop-2-enal  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-hydroxynon-2-enal  (ISO)
4-nitroquinoline N-oxide  (EXP)
5-aza-2'-deoxycytidine  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP,ISO)
acrylonitrile  (ISO)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP,ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
Aroclor 1254  (ISO)
atrazine  (EXP)
azathioprine  (ISO)
benzbromarone  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP,ISO)
Benzo[a]pyrene-7,8-diol  (EXP)
beta-carotene  (ISO)
biphenyl-4-amine  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Brodifacoum  (ISO)
buspirone  (ISO)
buta-1,3-diene  (EXP,ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
calcitriol  (EXP)
calyculin a  (ISO)
carbon nanotube  (ISO)
carmustine  (ISO)
chromium(6+)  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
coumestrol  (EXP)
curcumin  (EXP)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
cyproconazole  (ISO)
D-glucose  (EXP)
D-mannitol  (ISO)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
diepoxybutane  (EXP)
Diisodecyl phthalate  (ISO)
dimethyl sulfoxide  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (ISO)
fipronil  (ISO)
folic acid  (ISO)
fructose  (EXP)
fumonisin B1  (ISO)
gamma-hexachlorocyclohexane  (ISO)
genistein  (EXP)
glucose  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
hexaconazole  (ISO)
hydrogen peroxide  (EXP)
hypochlorous acid  (EXP)
isoniazide  (ISO)
L-ascorbic acid  (ISO)
L-ethionine  (ISO)
lead diacetate  (EXP,ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
MeIQ  (ISO)
MeIQx  (ISO)
methapyrilene  (ISO)
methotrexate  (EXP)
methoxychlor  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (EXP)
nefazodone  (ISO)
neoglucobrassicin  (EXP)
nickel sulfate  (EXP)
nimesulide  (ISO)
nitric oxide  (EXP)
okadaic acid  (ISO)
omeprazole  (ISO)
oxirane  (ISO)
ozone  (ISO)
p-toluidine  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
pent-4-enoic acid  (ISO)
pentachlorophenol  (EXP)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
PhIP  (EXP,ISO)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (ISO)
potassium bromate  (EXP,ISO)
potassium dichromate  (EXP)
propiconazole  (ISO)
pyrogallol  (ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP)
retinyl acetate  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
styrene  (EXP)
tamoxifen  (ISO)
temozolomide  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
Thiotepa  (ISO)
tioguanine  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
troglitazone  (EXP)
tungsten  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vanillin  (EXP)
vitamin E  (ISO)
zidovudine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA)
cytosol  (IDA,TAS)
extracellular exosome  (HDA)

Molecular Function

References

Additional References at PubMed
PMID:659426   PMID:1301916   PMID:1487231   PMID:1551676   PMID:1840476   PMID:1937471   PMID:2018042   PMID:2071157   PMID:2246854   PMID:2341149   PMID:2347587   PMID:2358296  
PMID:2738157   PMID:2760209   PMID:2835825   PMID:2896620   PMID:2909537   PMID:2910902   PMID:2928313   PMID:3008106   PMID:3023844   PMID:3148064   PMID:3198771   PMID:3265398  
PMID:3320967   PMID:3358423   PMID:3384338   PMID:3527873   PMID:3909940   PMID:3921964   PMID:6087154   PMID:6204922   PMID:6300847   PMID:6309910   PMID:6343377   PMID:6572373  
PMID:6706936   PMID:6853490   PMID:6853716   PMID:6930669   PMID:7107641   PMID:7627191   PMID:8044844   PMID:8485579   PMID:8524221   PMID:8643611   PMID:9003484   PMID:9521733  
PMID:9824441   PMID:10338013   PMID:10360366   PMID:11018746   PMID:11219770   PMID:11434773   PMID:11591653   PMID:11668636   PMID:11714443   PMID:11891689   PMID:12175903   PMID:12376523  
PMID:12477932   PMID:12616531   PMID:12874812   PMID:14499622   PMID:14767555   PMID:15146465   PMID:15178494   PMID:15204312   PMID:15277709   PMID:15489334   PMID:15491638   PMID:15571220  
PMID:15571222   PMID:15571223   PMID:15571224   PMID:15601998   PMID:15779006   PMID:15862283   PMID:15862284   PMID:15987524   PMID:15990111   PMID:16138897   PMID:16189514   PMID:16216473  
PMID:16240158   PMID:16355393   PMID:16458330   PMID:16928426   PMID:16951156   PMID:17027311   PMID:17353931   PMID:17454734   PMID:17628775   PMID:17697207   PMID:17700363   PMID:17934765  
PMID:18029348   PMID:18288319   PMID:18316217   PMID:18407966   PMID:18409516   PMID:18494542   PMID:18600506   PMID:18600559   PMID:18779430   PMID:18835879   PMID:19016344   PMID:19060904  
PMID:19342420   PMID:19527031   PMID:19672249   PMID:19706768   PMID:19995283   PMID:20038437   PMID:20045992   PMID:20301328   PMID:20301334   PMID:20458337   PMID:20536392   PMID:20544509  
PMID:20544510   PMID:20544511   PMID:20981450   PMID:21145461   PMID:21305049   PMID:21486037   PMID:21780909   PMID:21873635   PMID:22042773   PMID:22132982   PMID:22132984   PMID:22132986  
PMID:22183764   PMID:22331909   PMID:22360420   PMID:22863883   PMID:22880027   PMID:22939629   PMID:23348497   PMID:23376485   PMID:23473102   PMID:23728617   PMID:23907213   PMID:24075303  
PMID:24711643   PMID:24999758   PMID:25136576   PMID:25192599   PMID:25416956   PMID:25502805   PMID:25612837   PMID:25833399   PMID:25910212   PMID:25914368   PMID:25963833   PMID:25965333  
PMID:26050630   PMID:26072972   PMID:26204901   PMID:26344197   PMID:26972000   PMID:27025967   PMID:27107014   PMID:27173435   PMID:27379977   PMID:27404508   PMID:27420966   PMID:27754763  
PMID:28045594   PMID:28302793   PMID:28514442   PMID:28515276   PMID:28524722   PMID:28581483   PMID:28712454   PMID:28904386   PMID:29128334   PMID:29185864   PMID:29229926   PMID:29331416  
PMID:29845934   PMID:29955894   PMID:30425250   PMID:30463901   PMID:30561431   PMID:30575818   PMID:30619736   PMID:30831305   PMID:30948266   PMID:31046837   PMID:31091453   PMID:31240211  
PMID:31515488   PMID:31732153   PMID:31980649   PMID:31995728   PMID:32129710   PMID:32296183   PMID:32814053   PMID:32826875  


Genomics

Comparative Map Data
HPRT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX134,460,165 - 134,520,513 (+)EnsemblGRCh38hg38GRCh38
GRCh38X134,460,165 - 134,500,668 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X133,594,195 - 133,634,698 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X133,421,923 - 133,462,362 (+)NCBINCBI36hg18NCBI36
Build 34X133,319,776 - 133,360,216NCBI
CeleraX133,981,004 - 134,021,522 (+)NCBI
Cytogenetic MapXq26.2-q26.3NCBI
HuRefX122,992,617 - 123,032,595 (+)NCBIHuRef
CHM1_1X133,505,941 - 133,546,459 (+)NCBICHM1_1
Hprt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X52,076,955 - 52,110,537 (+)NCBIGRCm39mm39
GRCm39 EnsemblX52,077,014 - 52,110,536 (+)Ensembl
GRCm38X52,988,078 - 53,021,660 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX52,988,137 - 53,021,659 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X50,341,255 - 50,374,837 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X49,232,764 - 49,266,286 (+)NCBImm8
CeleraX40,414,095 - 40,447,630 (+)NCBICelera
Cytogenetic MapXA5NCBI
cM MapX29.31NCBI
Hprt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X132,736,175 - 132,768,149 (+)NCBI
Rnor_6.0 EnsemblX158,197,149 - 158,228,749 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 EnsemblX158,623,240 - 158,655,198 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X158,196,640 - 158,228,815 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X152,821,947 - 152,854,198 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0X153,249,874 - 153,281,841 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X139,929,647 - 139,961,616 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X140,003,079 - 140,035,048 (+)NCBI
Cytogenetic MapXq37NCBI
Hprt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955473462,940 - 510,006 (-)NCBIChiLan1.0ChiLan1.0
HPRT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X133,908,233 - 133,948,197 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX133,916,681 - 133,948,197 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X123,609,248 - 123,650,102 (+)NCBIMhudiblu_PPA_v0panPan3
HPRT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X105,115,732 - 105,153,702 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX105,115,732 - 105,153,702 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX91,226,153 - 91,264,410 (+)NCBI
ROS_Cfam_1.0X106,975,655 - 107,013,438 (+)NCBI
UMICH_Zoey_3.1X104,388,675 - 104,426,954 (+)NCBI
UNSW_CanFamBas_1.0X106,254,668 - 106,292,939 (+)NCBI
UU_Cfam_GSD_1.0X106,046,035 - 106,084,329 (+)NCBI
Hprt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X103,263,023 - 103,304,555 (+)NCBI
SpeTri2.0NW_004936691650,753 - 694,362 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HPRT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX110,321,208 - 110,357,899 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X110,321,144 - 110,357,902 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
HPRT1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X109,629,674 - 109,671,409 (+)NCBI
Hprt1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479714,148,580 - 14,184,471 (+)NCBI

Position Markers
STS-N33128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,634,526 - 133,634,695UniSTSGRCh37
Build 36X133,462,192 - 133,462,361RGDNCBI36
CeleraX134,021,350 - 134,021,519RGD
Cytogenetic MapXq26.1UniSTS
HuRefX123,032,423 - 123,032,592UniSTS
GeneMap99-GB4 RH MapX332.53UniSTS
AL035130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,599,814 - 133,599,998UniSTSGRCh37
Build 36X133,427,480 - 133,427,664RGDNCBI36
CeleraX133,986,643 - 133,986,827RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,998,060 - 122,998,244UniSTS
G42837  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,633,080 - 133,633,981UniSTSGRCh37
Build 36X133,460,746 - 133,461,647RGDNCBI36
CeleraX134,019,904 - 134,020,805RGD
Cytogenetic MapXq26.1UniSTS
HuRefX123,030,977 - 123,031,878UniSTS
GDB:192504  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,632,418 - 133,632,695UniSTSGRCh37
Build 36X133,460,084 - 133,460,361RGDNCBI36
CeleraX134,019,242 - 134,019,519RGD
Cytogenetic MapXq26.1UniSTS
HuRefX123,030,315 - 123,030,592UniSTS
HPRT  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,609,215 - 133,609,394UniSTSGRCh37
Build 36X133,436,881 - 133,437,060RGDNCBI36
CeleraX133,996,045 - 133,996,224RGD
Cytogenetic MapXq26.1UniSTS
Cytogenetic MapXq26UniSTS
HuRefX123,007,422 - 123,007,601UniSTS
GDB:181411  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,615,484 - 133,615,646UniSTSGRCh37
Build 36X133,443,150 - 133,443,312RGDNCBI36
CeleraX134,002,314 - 134,002,472RGD
Cytogenetic MapXq26.1UniSTS
HuRefX123,013,504 - 123,013,670UniSTS
GDB:185506  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,615,405 - 133,615,691UniSTSGRCh37
Build 36X133,443,071 - 133,443,357RGDNCBI36
CeleraX134,002,235 - 134,002,517RGD
Cytogenetic MapXq26.1UniSTS
HuRefX123,013,425 - 123,013,715UniSTS
GDB:371809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,615,375 - 133,615,703UniSTSGRCh37
Build 36X133,443,041 - 133,443,369RGDNCBI36
CeleraX134,002,205 - 134,002,529RGD
Cytogenetic MapXq26.1UniSTS
HuRefX123,013,395 - 123,013,727UniSTS
STS-V00530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,634,498 - 133,634,659UniSTSGRCh37
Build 36X133,462,164 - 133,462,325RGDNCBI36
CeleraX134,021,322 - 134,021,483RGD
Cytogenetic MapXq26.1UniSTS
HuRefX123,032,395 - 123,032,556UniSTS
GeneMap99-GB4 RH MapX317.61UniSTS
G67193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,626,453 - 133,627,441UniSTSGRCh37
Build 36X133,454,119 - 133,455,107RGDNCBI36
CeleraX134,013,277 - 134,014,265RGD
Cytogenetic MapXq26.1UniSTS
HuRefX123,024,351 - 123,025,339UniSTS
G67213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,617,075 - 133,617,907UniSTSGRCh37
Build 36X133,444,741 - 133,445,573RGDNCBI36
CeleraX134,003,901 - 134,004,733RGD
Cytogenetic MapXq26.1UniSTS
HuRefX123,015,099 - 123,015,931UniSTS
PMC137113P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,598,136 - 133,598,805UniSTSGRCh37
Build 36X133,425,802 - 133,426,471RGDNCBI36
CeleraX133,984,965 - 133,985,634RGD
Cytogenetic MapXq26.1UniSTS
PMC156144P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,617,012 - 133,617,543UniSTSGRCh37
Build 36X133,444,678 - 133,445,209RGDNCBI36
CeleraX134,003,838 - 134,004,369RGD
Cytogenetic MapXq26.1UniSTS
HuRefX123,015,036 - 123,015,567UniSTS
PMC156144P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,632,012 - 133,632,326UniSTSGRCh37
Build 36X133,459,678 - 133,459,992RGDNCBI36
CeleraX134,018,836 - 134,019,150RGD
Cytogenetic MapXq26.1UniSTS
HuRefX123,029,909 - 123,030,223UniSTS
PMC22513P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,607,184 - 133,607,758UniSTSGRCh37
Build 36X133,434,850 - 133,435,424RGDNCBI36
CeleraX133,994,013 - 133,994,587RGD
Cytogenetic MapXq26.1UniSTS
HuRefX123,005,390 - 123,005,964UniSTS
PMC313988P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,633,531 - 133,633,890UniSTSGRCh37
Build 36X133,461,197 - 133,461,556RGDNCBI36
CeleraX134,020,355 - 134,020,714RGD
Cytogenetic MapXq26.1UniSTS
HuRefX123,031,428 - 123,031,787UniSTS
PMC313988P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,605,946 - 133,606,305UniSTSGRCh37
Build 36X133,433,612 - 133,433,971RGDNCBI36
CeleraX133,992,775 - 133,993,134RGD
Cytogenetic MapXq26.1UniSTS
HuRefX123,004,151 - 123,004,511UniSTS
PMC344179P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,593,695 - 133,593,888UniSTSGRCh37
Build 36X133,421,361 - 133,421,554RGDNCBI36
CeleraX133,980,524 - 133,980,717RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,992,088 - 122,992,281UniSTS
PMC344179P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,593,726 - 133,593,888UniSTSGRCh37
Build 36X133,421,392 - 133,421,554RGDNCBI36
CeleraX133,980,555 - 133,980,717RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,992,119 - 122,992,281UniSTS
PMC99939P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,594,752 - 133,595,181UniSTSGRCh37
Build 36X133,422,418 - 133,422,847RGDNCBI36
CeleraX133,981,581 - 133,982,010RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,993,061 - 122,993,490UniSTS
HPRT1_1621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,634,067 - 133,634,812UniSTSGRCh37
Build 36X133,461,733 - 133,462,478RGDNCBI36
CeleraX134,020,891 - 134,021,636RGD
HuRefX123,031,964 - 123,032,709UniSTS
DXS10107A8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,610,927 - 133,611,175UniSTSGRCh37
Build 36X133,438,593 - 133,438,841RGDNCBI36
CeleraX133,997,757 - 133,998,005RGD
HuRefX123,009,134 - 123,009,382UniSTS
HPRTB_-_Allele_11.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,615,361 - 133,615,764UniSTSGRCh37
CeleraX134,002,191 - 134,002,590UniSTS
HuRefX123,013,381 - 123,013,788UniSTS
GDB:177372  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq26.1UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR34Ahsa-miR-34a-5pMirtarbaseexternal_infoqRT-PCRNon-Functional MTI (Weak)19696787

Predicted Target Of
Summary Value
Count of predictions:370
Count of miRNA genes:288
Interacting mature miRNAs:312
Transcripts:ENST00000298556, ENST00000462974, ENST00000475720
Prediction methods:Microtar, 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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2
Medium 2306 2282 1619 503 1519 362 3917 1657 3436 416 1440 1606 158 1 1166 2438 4
Low 133 709 107 121 431 103 440 540 297 3 18 7 17 38 350 2 2
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY780550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR407645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR817914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L29382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L29383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M12452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M24772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M31642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW727705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S60300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S73734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S73735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S73736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S73742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S79313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000298556   ⟹   ENSP00000298556
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX134,460,165 - 134,500,668 (+)Ensembl
RefSeq Acc Id: ENST00000462974
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX134,460,351 - 134,498,641 (+)Ensembl
RefSeq Acc Id: ENST00000475720
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX134,473,374 - 134,520,513 (+)Ensembl
RefSeq Acc Id: NM_000194   ⟹   NP_000185
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,460,165 - 134,500,668 (+)NCBI
GRCh37X133,594,175 - 133,634,698 (+)ENTREZGENE
Build 36X133,421,923 - 133,462,362 (+)NCBI Archive
HuRefX122,992,617 - 123,032,595 (+)ENTREZGENE
CHM1_1X133,505,941 - 133,546,459 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000185   ⟸   NM_000194
- UniProtKB: P00492 (UniProtKB/Swiss-Prot),   A0A140VJL3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000298556   ⟸   ENST00000298556
Protein Domains
Pribosyltran

Promoters
RGD ID:6808920
Promoter ID:HG_KWN:68106
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000370796,   NM_000194,   OTTHUMT00000058362,   UC010NRS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X133,421,669 - 133,422,169 (+)MPROMDB
RGD ID:6853476
Promoter ID:EP74563
Type:initiation region
Name:HS_HPRT1_1
Description:Hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #1 of 2; 5' exon 1; site 1.; see alsoEP74564  
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36X133,421,861 - 133,421,921EPD
RGD ID:6853478
Promoter ID:EP74564
Type:initiation region
Name:HS_HPRT1_2
Description:Hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #2 of 2; 5' exon 1; site 2; major promoter.; see alsoEP74563  
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36X133,421,970 - 133,422,030EPD
RGD ID:13628142
Promoter ID:EPDNEW_H29346
Type:multiple initiation site
Name:HPRT1_2
Description:hypoxanthine phosphoribosyltransferase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29347  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,453,828 - 134,453,888EPDNEW
RGD ID:13628144
Promoter ID:EPDNEW_H29347
Type:initiation region
Name:HPRT1_1
Description:hypoxanthine phosphoribosyltransferase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29346  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,460,192 - 134,460,252EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
HPRT CHICAGO duplication HPRT CHICAGO [RCV001255648]|Lesch-Nyhan syndrome [RCV000010718] ChrX:134473386..134473387 [GRCh38]
ChrX:133607416..133607417 [GRCh37]
ChrX:Xq26.2
pathogenic|other
HPRT CONNERSVILLE deletion HPRT CONNERSVILLE [RCV001255649]|Lesch-Nyhan syndrome [RCV000010720] ChrX:Xq26-q27.2 pathogenic|other
HPRT MICHIGAN deletion HPRT MICHIGAN [RCV001255646]|Lesch-Nyhan syndrome [RCV000010732] ChrX:Xq26-q27.2 pathogenic|other
HPRT, 2-BP DEL, GT deletion Lesch-Nyhan syndrome [RCV000010750] ChrX:Xq26-q27.2 pathogenic
HPRT, 1-BP DEL, TTA-TA deletion Lesch-Nyhan syndrome [RCV000010751] ChrX:Xq26-q27.2 pathogenic
HPRT, 1-BP DEL, TTG-TG deletion Lesch-Nyhan syndrome [RCV000010752] ChrX:Xq26-q27.2 pathogenic
HPRT, 40-BP DEL deletion Lesch-Nyhan syndrome [RCV000010753] ChrX:Xq26-q27.2 pathogenic
NM_000194.3(HPRT1):c.609+5G>A single nucleotide variant Lesch-Nyhan syndrome [RCV000010754] ChrX:134498689 [GRCh38]
ChrX:133632719 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_000194.3(HPRT1):c.610-4_610-2delinsTTT indel Lesch-Nyhan syndrome [RCV000010755] ChrX:134500026..134500028 [GRCh38]
ChrX:133634056..133634058 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000194.3(HPRT1):c.532+5G>A single nucleotide variant Lesch-Nyhan syndrome [RCV000010756] ChrX:134498441 [GRCh38]
ChrX:133632471 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_000194.3(HPRT1):c.28-2A>T single nucleotide variant Lesch-Nyhan syndrome [RCV000010757] ChrX:134473357 [GRCh38]
ChrX:133607387 [GRCh37]
ChrX:Xq26.2
pathogenic
HPRT, 13-BP DEL, 5-PRIME UTR deletion Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010767] ChrX:Xq26-q27.2 pathogenic
HPRT, EX2DEL deletion Lesch-Nyhan syndrome [RCV000010768] ChrX:Xq26-q27.2 pathogenic
HPRT, EX4-9DEL deletion Lesch-Nyhan syndrome [RCV000010769] ChrX:Xq26-q27.2 pathogenic
NC_000023.11:g.(134493178_134493182)_(134501172_134501176)del deletion Lesch-Nyhan syndrome [RCV000010770] ChrX:134493182..134501172 [GRCh38]
ChrX:Xq26-q27.2
pathogenic
HPRT, EX9DEL deletion Lesch-Nyhan syndrome [RCV000010771] ChrX:Xq26-q27.2 pathogenic
HPRT, DEL deletion Lesch-Nyhan syndrome [RCV000010772] ChrX:Xq26-q27.2 pathogenic
HPRT,1-BP INS, 207G insertion Lesch-Nyhan syndrome [RCV000010773] ChrX:Xq26-q27.2 pathogenic
HPRT, INV/DEL, EX6-9 deletion Lesch-Nyhan syndrome [RCV000010774] ChrX:Xq26-q27.2 pathogenic
HPRT, EX2-3DUP, IVS1DEL duplication Lesch-Nyhan syndrome [RCV000010775] ChrX:Xq26-q27.2 pathogenic
HPRT CHERMSIDE single nucleotide variant HPRT CHERMSIDE [RCV001255650]|Lesch-Nyhan syndrome [RCV000010783] ChrX:134493591 [GRCh38]
ChrX:133627621 [GRCh37]
ChrX:Xq26.2
pathogenic|other
HPRT COORPAROO duplication HPRT COORPAROO [RCV001255651]|Lesch-Nyhan syndrome [RCV000010785] ChrX:134473401..134473402 [GRCh38]
ChrX:133607431..133607432 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_000194.2(HPRT1):c.-707_27+2236del deletion Lesch-Nyhan syndrome [RCV000010795] ChrX:134459640..134462574 [GRCh38]
ChrX:Xq26-q27.2
pathogenic
NM_000194.3(HPRT1):c.143G>A (p.Arg48His) single nucleotide variant Lesch-nyhan syndrome, neurologic variant [RCV000022877]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000690811]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001255647]|not provided [RCV001092162] ChrX:134475189 [GRCh38]
ChrX:133609219 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_000194.2(HPRT1):c.396T>G (p.Ile132Met) single nucleotide variant HPRT ANN ARBOR [RCV000010713]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010712] ChrX:134490199 [GRCh38]
ChrX:133624229 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_000194.2(HPRT1):c.239A>T (p.Asp80Val) single nucleotide variant HPRT ARLINGTON [RCV000010715]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010714] ChrX:134475285 [GRCh38]
ChrX:133609315 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_000194.2(HPRT1):c.602A>G (p.Asp201Gly) single nucleotide variant HPRT ASHVILLE [RCV000010717]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010716] ChrX:134498677 [GRCh38]
ChrX:133632707 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_000194.2(HPRT1):c.122T>C (p.Leu41Pro) single nucleotide variant HPRT DETROIT [RCV000010723]|Lesch-Nyhan syndrome [RCV000010722] ChrX:134473453 [GRCh38]
ChrX:133607483 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_000194.2(HPRT1):c.643_*6del21 (p.Lys215fs) deletion HPRT EVANSVILLE [RCV000010725]|Lesch-Nyhan syndrome [RCV000010724] ChrX:134500063..134500083 [GRCh38]
ChrX:133634093..133634113 [GRCh37]
ChrX:Xq26.3
pathogenic|other
NM_000194.2(HPRT1):c.222C>A (p.Phe74Leu) single nucleotide variant HPRT FLINT [RCV000010727]|Lesch-Nyhan syndrome [RCV000010726] ChrX:134475268 [GRCh38]
ChrX:133609298 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_000194.2(HPRT1):c.580G>A (p.Asp194Asn) single nucleotide variant Lesch-Nyhan syndrome [RCV000010728] ChrX:134498655 [GRCh38]
ChrX:133632685 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_000194.2(HPRT1):c.329C>T (p.Ser110Leu) single nucleotide variant HPRT LONDON [RCV000010731]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010730] ChrX:134486475 [GRCh38]
ChrX:133620505 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_000194.2(HPRT1):c.389T>A (p.Val130Asp) single nucleotide variant HPRT MIDLAND [RCV000010735]|Lesch-Nyhan syndrome [RCV000010734] ChrX:134490192 [GRCh38]
ChrX:133624222 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_000194.2(HPRT1):c.481G>T (p.Ala161Ser) single nucleotide variant HPRT MILWAUKEE [RCV000010737]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010736] ChrX:134493586 [GRCh38]
ChrX:133627616 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_000194.2(HPRT1):c.312C>A (p.Ser104Arg) single nucleotide variant HPRT MUNICH [RCV000010739]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010738] ChrX:134475358 [GRCh38]
ChrX:133609388 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_000194.2(HPRT1):c.595T>G (p.Phe199Val) single nucleotide variant HPRT NEW BRITON [RCV000010741]|Lesch-Nyhan syndrome [RCV000010740] ChrX:134498670 [GRCh38]
ChrX:133632700 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_000194.2(HPRT1):c.209G>A (p.Gly70Glu) single nucleotide variant HPRT NEW HAVEN [RCV000010743]|Lesch-Nyhan syndrome [RCV000010742] ChrX:134475255 [GRCh38]
ChrX:133609285 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) single nucleotide variant HPRT YALE [RCV000010745]|Lesch-Nyhan syndrome [RCV000010744]|not provided [RCV000790697] ChrX:134475257 [GRCh38]
ChrX:133609287 [GRCh37]
ChrX:Xq26.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter) single nucleotide variant Lesch-Nyhan syndrome [RCV000010746]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000631414] ChrX:134486471 [GRCh38]
ChrX:133620501 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_000194.3(HPRT1):c.610C>G (p.His204Asp) single nucleotide variant Lesch-Nyhan syndrome [RCV000010747]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001250108] ChrX:134500030 [GRCh38]
ChrX:133634060 [GRCh37]
ChrX:Xq26.3
pathogenic|likely pathogenic
NM_000194.3(HPRT1):c.134G>A (p.Arg45Lys) single nucleotide variant Lesch-Nyhan syndrome [RCV000010748] ChrX:134473465 [GRCh38]
ChrX:133607495 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_000194.3(HPRT1):c.529G>T (p.Asp177Tyr) single nucleotide variant Lesch-Nyhan syndrome [RCV000010749] ChrX:134498433 [GRCh38]
ChrX:133632463 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_000194.3(HPRT1):c.527C>T (p.Pro176Leu) single nucleotide variant Lesch-Nyhan syndrome [RCV000010758] ChrX:134498431 [GRCh38]
ChrX:133632461 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_000194.2(HPRT1):c.151C>G (p.Arg51Gly) single nucleotide variant HPRT TORONTO [RCV000010760]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010759] ChrX:134475197 [GRCh38]
ChrX:133609227 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) single nucleotide variant HPRT FUJIMI [RCV000010762]|Lesch-Nyhan syndrome [RCV000010761]|Microcephaly [RCV001252944]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001224361]|not provided [RCV000153366] ChrX:134475197 [GRCh38]
ChrX:133609227 [GRCh37]
ChrX:Xq26.2
pathogenic|uncertain significance|other
NM_000194.2(HPRT1):c.170T>C (p.Met57Thr) single nucleotide variant HPRT MONTREAL [RCV000010764]|Lesch-nyhan syndrome, neurologic variant [RCV000010763] ChrX:134475216 [GRCh38]
ChrX:133609246 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_000194.3(HPRT1):c.428T>A (p.Met143Lys) single nucleotide variant Lesch-Nyhan syndrome [RCV000010765] ChrX:134493533 [GRCh38]
ChrX:133627563 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_000194.3(HPRT1):c.508C>T (p.Arg170Ter) single nucleotide variant Lesch-Nyhan syndrome [RCV000010766] ChrX:134498412 [GRCh38]
ChrX:133632442 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_000194.2(HPRT1):c.503C>T (p.Thr168Ile) single nucleotide variant Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010776] ChrX:134498407 [GRCh38]
ChrX:133632437 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_000194.2(HPRT1):c.46G>A (p.Gly16Ser) single nucleotide variant HPRT URANGAN [RCV000010778]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010777] ChrX:134473377 [GRCh38]
ChrX:133607407 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_000194.2(HPRT1):c.172G>A (p.Gly58Arg) single nucleotide variant HPRT TOOWONG [RCV000010780]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010779] ChrX:134475218 [GRCh38]
ChrX:133609248 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_000194.2(HPRT1):c.232C>G (p.Leu78Val) single nucleotide variant HPRT SWAN [RCV000010782]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010781] ChrX:134475278 [GRCh38]
ChrX:133609308 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_000194.2(HPRT1):c.155A>G (p.Asp52Gly) single nucleotide variant HPRT EDINBURGH [RCV000010788]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010787] ChrX:134475201 [GRCh38]
ChrX:133609231 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_000194.2(HPRT1):c.419G>A (p.Gly140Asp) single nucleotide variant HPRT TOKYO [RCV000010790]|Lesch-Nyhan syndrome [RCV000010789] ChrX:134493524 [GRCh38]
ChrX:133627554 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_000194.2(HPRT1):c.582C>G (p.Asp194Glu) single nucleotide variant HPRT MOOSE JAW [RCV000010792]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010791] ChrX:134498657 [GRCh38]
ChrX:133632687 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_000194.2(HPRT1):c.459T>G (p.Tyr153Ter) single nucleotide variant HPRT PARIS [RCV000010794]|Lesch-Nyhan syndrome [RCV000010793] ChrX:134493564 [GRCh38]
ChrX:133627594 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_000194.3(HPRT1):c.193C>T (p.Leu65Phe) single nucleotide variant Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010796] ChrX:134475239 [GRCh38]
ChrX:133609269 [GRCh37]
ChrX:Xq26.2
pathogenic|other
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 Xq26.2-26.3(chrX:133909683-135211108)x1 copy number loss See cases [RCV000050881] ChrX:133909683..135211108 [GRCh38]
ChrX:133043710..134345039 [GRCh37]
ChrX:132871376..134172705 [NCBI36]
ChrX:Xq26.2-26.3
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 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
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 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
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 Xp22.33-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 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
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-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-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
NM_000194.3(HPRT1):c.384+1G>A single nucleotide variant not provided [RCV000344145] ChrX:134486531 [GRCh38]
ChrX:133620561 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_000194.3(HPRT1):c.486-1G>A single nucleotide variant not provided [RCV000078345] ChrX:134498389 [GRCh38]
ChrX:133632419 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_000194.3(HPRT1):c.496A>G (p.Lys166Glu) single nucleotide variant not provided [RCV000078346] ChrX:134498400 [GRCh38]
ChrX:133632430 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_000194.3(HPRT1):c.655T>A (p.Ter219Lys) single nucleotide variant not provided [RCV000078347] ChrX:134500075 [GRCh38]
ChrX:133634105 [GRCh37]
ChrX:Xq26.3
uncertain significance
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_000194.3(HPRT1):c.480C>T (p.Val160=) single nucleotide variant History of neurodevelopmental disorder [RCV000718820]|not provided [RCV000966559]|not specified [RCV000179272] ChrX:134493585 [GRCh38]
ChrX:133627615 [GRCh37]
ChrX:Xq26.2
benign
NM_000194.3(HPRT1):c.319-7del deletion not specified [RCV000178061] ChrX:134486445 [GRCh38]
ChrX:133620475 [GRCh37]
ChrX:Xq26.2
benign
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-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: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-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 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq26.2-26.3(chrX:134476312-134805554)x3 copy number gain See cases [RCV000133770] ChrX:134476312..134805554 [GRCh38]
ChrX:133610342..133939584 [GRCh37]
ChrX:133438008..133767250 [NCBI36]
ChrX:Xq26.2-26.3
uncertain significance
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 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
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 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
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 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
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 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
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 Xq26.2-26.3(chrX:134405152-134565964)x2 copy number gain See cases [RCV000135972] ChrX:134405152..134565964 [GRCh38]
ChrX:133539182..133699994 [GRCh37]
ChrX:133366848..133527660 [NCBI36]
ChrX:Xq26.2-26.3
likely pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
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 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
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-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 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.2-26.3(chrX:133960528-134514299)x3 copy number gain See cases [RCV000137403] ChrX:133960528..134514299 [GRCh38]
ChrX:133094555..133648329 [GRCh37]
ChrX:132922221..133475995 [NCBI36]
ChrX:Xq26.2-26.3
pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq26.2-26.3(chrX:134295427-134823790)x2 copy number gain See cases [RCV000138076] ChrX:134295427..134823790 [GRCh38]
ChrX:133429457..133957820 [GRCh37]
ChrX:133257123..133785486 [NCBI36]
ChrX:Xq26.2-26.3
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
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 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
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 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq26.2-26.3(chrX:133532321-137519462)x2 copy number gain See cases [RCV000140818] ChrX:133532321..137519462 [GRCh38]
ChrX:132666349..136601621 [GRCh37]
ChrX:132494015..136429287 [NCBI36]
ChrX:Xq26.2-26.3
likely 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-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 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
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 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-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-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 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
NM_000194.3(HPRT1):c.212dup (p.Tyr72fs) duplication Lesch-Nyhan syndrome [RCV001198061]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001229151]|not provided [RCV000153367] ChrX:134475252..134475253 [GRCh38]
ChrX:133609282..133609283 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_000194.3(HPRT1):c.134+6_134+9del microsatellite Lesch-Nyhan syndrome [RCV000990948]|not provided [RCV000175546] ChrX:134473466..134473469 [GRCh38]
ChrX:133607501..133607504 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
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
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
NM_000194.3(HPRT1):c.532+2T>G single nucleotide variant not provided [RCV000153368] ChrX:134498438 [GRCh38]
ChrX:133632468 [GRCh37]
ChrX:Xq26.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-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_000194.3(HPRT1):c.364C>T (p.Leu122Phe) single nucleotide variant not provided [RCV000519577] ChrX:134486510 [GRCh38]
ChrX:133620540 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000194.3(HPRT1):c.580G>C (p.Asp194His) single nucleotide variant not provided [RCV000343059] ChrX:134498655 [GRCh38]
ChrX:133632685 [GRCh37]
ChrX:Xq26.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000194.3(HPRT1):c.202C>T (p.Leu68Phe) single nucleotide variant not provided [RCV000330466] ChrX:134475248 [GRCh38]
ChrX:133609278 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_000194.3(HPRT1):c.266_269del (p.Ser89fs) deletion not provided [RCV000337962] ChrX:134475311..134475314 [GRCh38]
ChrX:133609341..133609344 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_000194.3(HPRT1):c.485G>T (p.Ser162Ile) single nucleotide variant Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000766072]|not provided [RCV000327497] ChrX:134493590 [GRCh38]
ChrX:133627620 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_000194.3(HPRT1):c.145C>T (p.Leu49Phe) single nucleotide variant not provided [RCV000407541] ChrX:134475191 [GRCh38]
ChrX:133609221 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_000194.3(HPRT1):c.643_*7del (p.Lys215fs) deletion not provided [RCV000595073] ChrX:134500062..134500083 [GRCh38]
ChrX:133634092..133634113 [GRCh37]
ChrX:Xq26.3
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
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-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
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-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 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq26.2-26.3(chrX:133190453-133660600)x3 copy number gain See cases [RCV000446293] ChrX:133190453..133660600 [GRCh37]
ChrX:Xq26.2-26.3
uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-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 Xq26.2-26.3(chrX:133107292-134142245)x2 copy number gain See cases [RCV000446156] ChrX:133107292..134142245 [GRCh37]
ChrX:Xq26.2-26.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
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 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
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 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
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 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000194.3(HPRT1):c.384+9C>T single nucleotide variant not provided [RCV000872938]|not specified [RCV000501452] ChrX:134486539 [GRCh38]
ChrX:133620569 [GRCh37]
ChrX:Xq26.2
benign|uncertain significance
NM_000194.3(HPRT1):c.47G>T (p.Gly16Val) single nucleotide variant Lesch-Nyhan syndrome [RCV000496113] ChrX:134473378 [GRCh38]
ChrX:133607408 [GRCh37]
ChrX:Xq26.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000194.3(HPRT1):c.325C>A (p.Gln109Lys) single nucleotide variant History of neurodevelopmental disorder [RCV000718469]|not specified [RCV000500647] ChrX:134486471 [GRCh38]
ChrX:133620501 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq26.2-26.3(chrX:132183437-134848915)x2 copy number gain See cases [RCV000512017] ChrX:132183437..134848915 [GRCh37]
ChrX:Xq26.2-26.3
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000194.3(HPRT1):c.566T>C (p.Val189Ala) single nucleotide variant not provided [RCV000493834] ChrX:134498641 [GRCh38]
ChrX:133632671 [GRCh37]
ChrX:Xq26.2
likely 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 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
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_000194.3(HPRT1):c.100A>G (p.Arg34Gly) single nucleotide variant not provided [RCV000493053] ChrX:134473431 [GRCh38]
ChrX:133607461 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq26.2-26.3(chrX:133081342-135086194)x0 copy number loss See cases [RCV000510757] ChrX:133081342..135086194 [GRCh37]
ChrX:Xq26.2-26.3
pathogenic
NM_000194.3(HPRT1):c.148G>C (p.Ala50Pro) single nucleotide variant History of neurodevelopmental disorder [RCV000717796]|Inborn genetic diseases [RCV000624209] ChrX:134475194 [GRCh38]
ChrX:133609224 [GRCh37]
ChrX:Xq26.2
likely pathogenic
NC_000023.11:g.(?_134460292)_(134500097_?)del deletion Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000631416] ChrX:134460292..134500097 [GRCh38]
ChrX:133594322..133634127 [GRCh37]
ChrX:Xq26.2-26.3
pathogenic
NM_000194.3(HPRT1):c.609dup (p.His204fs) duplication Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000631415] ChrX:134498683..134498684 [GRCh38]
ChrX:133632713..133632714 [GRCh37]
ChrX:Xq26.2
likely pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1 copy number loss not provided [RCV000684387] ChrX:126759247..135790885 [GRCh37]
ChrX:Xq25-26.3
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
NM_000194.3(HPRT1):c.536T>C (p.Val179Ala) single nucleotide variant Lesch-Nyhan syndrome [RCV000678321] ChrX:134498611 [GRCh38]
ChrX:133632641 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
NM_000194.3(HPRT1):c.368C>G (p.Ser123Ter) single nucleotide variant Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000706332] ChrX:134486514 [GRCh38]
ChrX:133620544 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_000194.3(HPRT1):c.453G>T (p.Arg151Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000717953] ChrX:134493558 [GRCh38]
ChrX:133627588 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
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:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
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
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_000194.3(HPRT1):c.454C>T (p.Gln152Ter) single nucleotide variant not provided [RCV000760358] ChrX:134493559 [GRCh38]
ChrX:133627589 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_000194.3(HPRT1):c.22_27+28del deletion Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001045083] ChrX:134460325..134460358 [GRCh38]
ChrX:133594355..133594388 [GRCh37]
ChrX:Xq26.2
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000194.3(HPRT1):c.610C>T (p.His204Tyr) single nucleotide variant Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000810491] ChrX:134500030 [GRCh38]
ChrX:133634060 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000194.3(HPRT1):c.319-2A>G single nucleotide variant Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000800143] ChrX:134486463 [GRCh38]
ChrX:133620493 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_000194.3(HPRT1):c.648del (p.Lys215_Tyr216insTer) deletion Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000808202] ChrX:134500068 [GRCh38]
ChrX:133634098 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000194.3(HPRT1):c.653C>G (p.Ala218Gly) single nucleotide variant Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000813167] ChrX:134500073 [GRCh38]
ChrX:133634103 [GRCh37]
ChrX:Xq26.3
uncertain significance
NC_000023.11:g.(?_134460292)_(134460385_?)del deletion Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000820575] ChrX:134460292..134460385 [GRCh38]
ChrX:133594322..133594415 [GRCh37]
ChrX:Xq26.2
pathogenic
NC_000023.11:g.(?_134473339)_(134500097_?)del deletion Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000796790] ChrX:134473339..134500097 [GRCh38]
ChrX:133607369..133634127 [GRCh37]
ChrX:Xq26.2-26.3
pathogenic
NM_000194.3(HPRT1):c.221T>G (p.Phe74Cys) single nucleotide variant Lesch-Nyhan syndrome [RCV000990949] ChrX:134475267 [GRCh38]
ChrX:133609297 [GRCh37]
ChrX:Xq26.2
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_000194.3(HPRT1):c.564del (p.Val188_Val189insTer) deletion Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001233727] ChrX:134498638 [GRCh38]
ChrX:133632668 [GRCh37]
ChrX:Xq26.2
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NC_000023.11:g.(?_134500010)_(134500097_?)del deletion Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001031357] ChrX:133634040..133634127 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_000194.3(HPRT1):c.124_127del (p.Ile42fs) deletion Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001067702] ChrX:134473453..134473456 [GRCh38]
ChrX:133607483..133607486 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_000194.3(HPRT1):c.481G>A (p.Ala161Thr) single nucleotide variant Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001051587] ChrX:134493586 [GRCh38]
ChrX:133627616 [GRCh37]
ChrX:Xq26.2
likely pathogenic
NM_000194.3(HPRT1):c.486-2A>G single nucleotide variant Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001063460] ChrX:134498388 [GRCh38]
ChrX:133632418 [GRCh37]
ChrX:Xq26.2
likely pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000194.3(HPRT1):c.178C>T (p.His60Tyr) single nucleotide variant Inborn genetic diseases [RCV001267347] ChrX:134475224 [GRCh38]
ChrX:133609254 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq26.2-26.3(chrX:132268495-134235471)x2 copy number gain not provided [RCV001260046] ChrX:132268495..134235471 [GRCh37]
ChrX:Xq26.2-26.3
uncertain significance
NM_000194.3(HPRT1):c.533-1G>A single nucleotide variant not provided [RCV001281641] ChrX:134498607 [GRCh38]
ChrX:133632637 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_000194.3(HPRT1):c.486-3C>G single nucleotide variant Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001342916] ChrX:134498387 [GRCh38]
ChrX:133632417 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000194.3(HPRT1):c.624T>C (p.Ile208=) single nucleotide variant not provided [RCV001311406] ChrX:134500044 [GRCh38]
ChrX:133634074 [GRCh37]
ChrX:Xq26.3
likely benign
NM_000194.3(HPRT1):c.355G>A (p.Gly119Arg) single nucleotide variant Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001309537] ChrX:134486501 [GRCh38]
ChrX:133620531 [GRCh37]
ChrX:Xq26.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5157 AgrOrtholog
COSMIC HPRT1 COSMIC
Ensembl Genes ENSG00000165704 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000298556 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000298556 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.2020 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000165704 GTEx
HGNC ID HGNC:5157 ENTREZGENE
Human Proteome Map HPRT1 Human Proteome Map
InterPro Hxn_phspho_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRibTrfase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRTase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3251 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3251 ENTREZGENE
OMIM 300322 OMIM
  300323 OMIM
  308000 OMIM
Pfam Pribosyltran UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB HPRT1 RGD, PharmGKB
PROSITE PUR_PYR_PR_TRANSFER UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53271 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs HGPRTase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0H3YEQ7_HUMAN UniProtKB/TrEMBL
  A0A140VJL3 ENTREZGENE, UniProtKB/TrEMBL
  HPRT_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6LET3_HUMAN UniProtKB/TrEMBL
UniProt Secondary A6NHF0 UniProtKB/Swiss-Prot
  B2R8M9 UniProtKB/Swiss-Prot