PRPS1 (phosphoribosyl pyrophosphate synthetase 1) - Rat Genome Database

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Gene: PRPS1 (phosphoribosyl pyrophosphate synthetase 1) Homo sapiens
Analyze
Symbol: PRPS1
Name: phosphoribosyl pyrophosphate synthetase 1
RGD ID: 736625
HGNC Page HGNC
Description: Exhibits ATP binding activity; protein homodimerization activity; and ribose phosphate diphosphokinase activity. Involved in nervous system development; purine-containing compound biosynthetic process; and urate biosynthetic process. Predicted to localize to cytoplasm and ribose phosphate diphosphokinase complex. Implicated in Arts syndrome; X-linked deafness 1; X-linked recessive disease (multiple); gout; and retinitis pigmentosa.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARTS; CMTX5; deafness 2, perceptive, congenital; deafness, X-linked 2, perceptive, congenital; DFN2; DFNX1; dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1); KIAA0967; phosphoribosyl pyrophosphate synthase I; PPRibP; PRS-I; PRSI; ribose-phosphate diphosphokinase 1; ribose-phosphate pyrophosphokinase 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Related Pseudogenes: PRPS1P1   PRPS1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX107,628,424 - 107,651,026 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX107,628,428 - 107,651,993 (+)EnsemblGRCh38hg38GRCh38
GRCh38X107,628,510 - 107,651,026 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X106,871,740 - 106,894,256 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X106,758,415 - 106,780,912 (+)NCBINCBI36hg18NCBI36
Build 34X106,677,903 - 106,700,400NCBI
CeleraX107,343,160 - 107,365,584 (+)NCBI
Cytogenetic MapXq22.3NCBI
HuRefX96,496,454 - 96,518,960 (+)NCBIHuRef
CHM1_1X106,782,575 - 106,805,177 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
1-minute APGAR score of 0  (IAGP)
5-minute APGAR score of 1  (IAGP)
Abnormal erythrocyte enzyme level  (IAGP)
Abnormal nerve conduction velocity  (IAGP)
Abnormality of somatosensory evoked potentials  (IAGP)
Absent speech  (IAGP)
Acute kidney injury  (IAGP)
Aplasia/Hypoplasia of the optic nerve  (IAGP)
Appendicular hypotonia  (IAGP)
Areflexia  (IAGP)
Areflexia of lower limbs  (IAGP)
Ataxia  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Blindness  (IAGP)
Central sleep apnea  (IAGP)
Childhood onset  (IAGP)
Clonus  (IAGP)
Congenital sensorineural hearing impairment  (IAGP)
Constriction of peripheral visual field  (IAGP)
Crystalluria  (IAGP)
Death in infancy  (IAGP)
Decreased motor nerve conduction velocity  (IAGP)
Decreased phosphoribosylpyrophosphate synthetase level  (IAGP)
Deeply set eye  (IAGP)
Delayed myelination  (IAGP)
Diabetes insipidus  (IAGP)
Distal amyotrophy  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Dolichocephaly  (IAGP)
Drooling  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
EEG with focal epileptiform discharges  (IAGP)
Elevated amniotic fluid alpha-fetoprotein  (IAGP)
EMG: chronic denervation signs  (IAGP)
Excessive daytime somnolence  (IAGP)
Exotropia  (IAGP)
Gait disturbance  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Gout  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Hyperactive deep tendon reflexes  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hyperuricemia  (IAGP)
Hyperuricosuria  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotonia  (IAGP)
Hypouricemia  (IAGP)
Immunodeficiency  (IAGP)
Impaired pain sensation  (IAGP)
Increased phosphoribosylpyrophosphate synthetase level  (IAGP)
Increased urinary urate  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intrauterine growth retardation  (IAGP)
Kyphosis  (IAGP)
Language impairment  (IAGP)
Limb hypertonia  (IAGP)
Low-set ears  (IAGP)
Macular atrophy  (IAGP)
Macular coloboma  (IAGP)
Motor delay  (IAGP)
Motor polyneuropathy  (IAGP)
Muscle weakness  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Mutism  (IAGP)
Myopia  (IAGP)
Neck muscle weakness  (IAGP)
Neonatal hypotonia  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Onion bulb formation  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Paraparesis  (IAGP)
Peripheral neuropathy  (IAGP)
Pes cavus  (IAGP)
Polyneuropathy  (IAGP)
Profound global developmental delay  (IAGP)
Profound sensorineural hearing impairment  (IAGP)
Progressive muscle weakness  (IAGP)
Progressive visual loss  (IAGP)
Prolonged neonatal jaundice  (IAGP)
Recurrent infections  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent upper respiratory tract infections  (IAGP)
Renal insufficiency  (IAGP)
Respiratory failure requiring assisted ventilation  (IAGP)
Retinal dystrophy  (IAGP)
Rod-cone dystrophy  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Segmental peripheral demyelination/remyelination  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sensory neuropathy  (IAGP)
Severe demyelination of the white matter  (IAGP)
Severe failure to thrive  (IAGP)
Severe infection  (IAGP)
Short stature  (IAGP)
Skeletal muscle hypertrophy  (IAGP)
Slow pupillary light response  (IAGP)
Spastic tetraparesis  (IAGP)
Spinal cord posterior columns myelin loss  (IAGP)
Tetraplegia  (IAGP)
Tremor  (IAGP)
Underdeveloped nasal alae  (IAGP)
Undetectable visual evoked potentials  (IAGP)
Uric acid nephrolithiasis  (IAGP)
Variable expressivity  (IAGP)
Visual loss  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:1314091   PMID:1650777   PMID:1962753   PMID:2155397   PMID:4328836   PMID:8125298   PMID:8702702   PMID:8882866   PMID:8968763   PMID:9366267   PMID:10066814   PMID:12477932  
PMID:12847698   PMID:15240907   PMID:15489334   PMID:15943588   PMID:15955956   PMID:16189514   PMID:16236267   PMID:16682768   PMID:16939420   PMID:17701896   PMID:17701900   PMID:18409517  
PMID:19161981   PMID:20021999   PMID:20301532   PMID:20301607   PMID:20301731   PMID:20301734   PMID:20301738   PMID:20380929   PMID:20462248   PMID:20544509   PMID:21834172   PMID:21869827  
PMID:21873635   PMID:22132986   PMID:22246954   PMID:22268729   PMID:22792159   PMID:22863883   PMID:22939629   PMID:23184937   PMID:23190330   PMID:23509005   PMID:24337577   PMID:24528855  
PMID:25036637   PMID:25416956   PMID:25437307   PMID:25502805   PMID:25790304   PMID:25816608   PMID:25910212   PMID:25921289   PMID:25962120   PMID:26089585   PMID:26186194   PMID:26248089  
PMID:26344197   PMID:26496610   PMID:26638075   PMID:26760575   PMID:26990986   PMID:27025967   PMID:27107014   PMID:27342126   PMID:27432908   PMID:27542412   PMID:27545878   PMID:27609421  
PMID:27886419   PMID:28177767   PMID:28514442   PMID:28515276   PMID:28675297   PMID:28742244   PMID:28967191   PMID:29020630   PMID:29047041   PMID:29111377   PMID:29128334   PMID:29229926  
PMID:29331416   PMID:29449217   PMID:29802200   PMID:29892012   PMID:29911972   PMID:30196744   PMID:30255549   PMID:30379953   PMID:30463901   PMID:30575818   PMID:30833792   PMID:30948266  
PMID:31091453   PMID:31253668   PMID:31338985   PMID:31515488   PMID:31586073   PMID:31773495   PMID:31796584   PMID:31980649   PMID:32129710   PMID:32296183   PMID:32814053   PMID:33144569  


Genomics

Comparative Map Data
PRPS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX107,628,424 - 107,651,026 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX107,628,428 - 107,651,993 (+)EnsemblGRCh38hg38GRCh38
GRCh38X107,628,510 - 107,651,026 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X106,871,740 - 106,894,256 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X106,758,415 - 106,780,912 (+)NCBINCBI36hg18NCBI36
Build 34X106,677,903 - 106,700,400NCBI
CeleraX107,343,160 - 107,365,584 (+)NCBI
Cytogenetic MapXq22.3NCBI
HuRefX96,496,454 - 96,518,960 (+)NCBIHuRef
CHM1_1X106,782,575 - 106,805,177 (+)NCBICHM1_1
Prps1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X139,357,352 - 139,376,889 (+)NCBIGRCm39mm39
GRCm39 EnsemblX139,357,362 - 139,376,889 (+)Ensembl
GRCm38X140,456,603 - 140,476,140 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX140,456,613 - 140,476,140 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X136,991,142 - 137,010,679 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X135,802,977 - 135,822,503 (+)NCBImm8
CeleraX123,716,011 - 123,735,469 (+)NCBICelera
Cytogenetic MapXF1NCBI
cM MapX61.35NCBI
Prps1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X104,132,139 - 104,154,191 (+)NCBI
Rnor_6.0 EnsemblX111,798,233 - 111,820,266 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X111,798,233 - 111,820,270 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0352,779,462 - 52,801,499 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X128,249,843 - 128,271,893 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X128,323,278 - 128,345,324 (+)NCBI
Celera343,777,612 - 43,799,661 (-)NCBICelera
Cytogenetic MapXq32NCBI
Prps1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554908,303,775 - 8,330,713 (-)NCBIChiLan1.0ChiLan1.0
PRPS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X107,094,898 - 107,117,117 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX107,094,898 - 107,117,117 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X96,720,988 - 96,743,594 (+)NCBIMhudiblu_PPA_v0panPan3
PRPS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X81,150,537 - 81,171,521 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX81,150,536 - 81,212,689 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX67,269,356 - 67,290,346 (+)NCBI
ROS_Cfam_1.0X82,796,457 - 82,817,447 (+)NCBI
UMICH_Zoey_3.1X80,256,666 - 80,277,657 (+)NCBI
UNSW_CanFamBas_1.0X81,968,332 - 81,989,524 (+)NCBI
UU_Cfam_GSD_1.0X81,759,859 - 81,781,048 (+)NCBI
Prps1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X80,521,497 - 80,543,124 (+)NCBI
SpeTri2.0NW_0049364997,114,838 - 7,136,468 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRPS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX88,074,963 - 88,119,094 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X88,074,861 - 88,101,925 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X102,515,177 - 102,542,941 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PRPS1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X95,452,481 - 95,475,933 (+)NCBI

Position Markers
AL035129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X106,879,994 - 106,880,128UniSTSGRCh37
Build 36X106,766,650 - 106,766,784RGDNCBI36
CeleraX107,351,500 - 107,351,634RGD
Cytogenetic MapXq22.3UniSTS
PRPS1_8569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X106,893,387 - 106,894,302UniSTSGRCh37
Build 36X106,780,043 - 106,780,958RGDNCBI36
CeleraX107,364,706 - 107,365,630RGD
HuRefX96,518,019 - 96,519,006UniSTS
RH36177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X106,888,866 - 106,888,989UniSTSGRCh37
Build 36X106,775,522 - 106,775,645RGDNCBI36
CeleraX107,360,185 - 107,360,308RGD
Cytogenetic MapXq22.3UniSTS
HuRefX96,513,534 - 96,513,657UniSTS
GeneMap99-GB4 RH MapX283.24UniSTS
NCBI RH MapX556.2UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR376A1hsa-miR-376a-5pMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI17322061

Predicted Target Of
Summary Value
Count of predictions:959
Count of miRNA genes:495
Interacting mature miRNAs:537
Transcripts:ENST00000372418, ENST00000372419, ENST00000372428, ENST00000372435, ENST00000543248
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2238 2482 1687 593 1652 435 4276 2010 3414 384 1441 1611 174 1 1203 2751 5 2
Low 201 509 39 31 299 30 81 187 320 35 19 2 1 1 37 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001204402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF104626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL772400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D00860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC411129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000372418   ⟹   ENSP00000361495
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,628,510 - 107,650,469 (+)Ensembl
RefSeq Acc Id: ENST00000372419   ⟹   ENSP00000361496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,628,530 - 107,641,124 (+)Ensembl
RefSeq Acc Id: ENST00000372428   ⟹   ENSP00000361505
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,628,424 - 107,651,026 (+)Ensembl
RefSeq Acc Id: ENST00000372435   ⟹   ENSP00000361512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,628,510 - 107,651,026 (+)Ensembl
RefSeq Acc Id: ENST00000643795   ⟹   ENSP00000496286
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,628,496 - 107,651,025 (+)Ensembl
RefSeq Acc Id: ENST00000644642   ⟹   ENSP00000495493
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,628,510 - 107,650,879 (+)Ensembl
RefSeq Acc Id: ENST00000645638   ⟹   ENSP00000496554
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,628,485 - 107,640,911 (+)Ensembl
RefSeq Acc Id: ENST00000645903
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,628,535 - 107,642,538 (+)Ensembl
RefSeq Acc Id: ENST00000646815   ⟹   ENSP00000495801
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,628,510 - 107,630,219 (+)Ensembl
RefSeq Acc Id: ENST00000674525
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,628,544 - 107,645,569 (+)Ensembl
RefSeq Acc Id: ENST00000674826   ⟹   ENSP00000502278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,628,516 - 107,650,142 (+)Ensembl
RefSeq Acc Id: ENST00000674843   ⟹   ENSP00000502260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,628,629 - 107,639,478 (+)Ensembl
RefSeq Acc Id: ENST00000675046   ⟹   ENSP00000501767
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,639,295 - 107,647,765 (+)Ensembl
RefSeq Acc Id: ENST00000675082   ⟹   ENSP00000502347
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,642,366 - 107,647,765 (+)Ensembl
RefSeq Acc Id: ENST00000675124   ⟹   ENSP00000502439
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,642,366 - 107,647,765 (+)Ensembl
RefSeq Acc Id: ENST00000675263   ⟹   ENSP00000502081
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,649,940 - 107,651,993 (+)Ensembl
RefSeq Acc Id: ENST00000675304
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,628,428 - 107,639,478 (+)Ensembl
RefSeq Acc Id: ENST00000675353   ⟹   ENSP00000502149
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,645,177 - 107,650,032 (+)Ensembl
RefSeq Acc Id: ENST00000675630   ⟹   ENSP00000502050
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,642,366 - 107,647,765 (+)Ensembl
RefSeq Acc Id: ENST00000675720   ⟹   ENSP00000501721
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,639,295 - 107,645,350 (+)Ensembl
RefSeq Acc Id: ENST00000675875   ⟹   ENSP00000502070
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,645,177 - 107,651,025 (+)Ensembl
RefSeq Acc Id: ENST00000675921   ⟹   ENSP00000502707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,642,366 - 107,645,350 (+)Ensembl
RefSeq Acc Id: ENST00000676092   ⟹   ENSP00000502780
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,628,611 - 107,650,050 (+)Ensembl
RefSeq Acc Id: ENST00000676322   ⟹   ENSP00000501977
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,649,940 - 107,651,026 (+)Ensembl
RefSeq Acc Id: ENST00000676365   ⟹   ENSP00000501550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,645,177 - 107,650,032 (+)Ensembl
RefSeq Acc Id: NM_001204402   ⟹   NP_001191331
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,628,510 - 107,651,026 (+)NCBI
GRCh37X106,871,654 - 106,894,256 (+)ENTREZGENE
HuRefX96,496,454 - 96,518,960 (+)ENTREZGENE
CHM1_1X106,782,575 - 106,805,177 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002764   ⟹   NP_002755
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,628,510 - 107,651,026 (+)NCBI
GRCh37X106,871,654 - 106,894,256 (+)NCBI
Build 36X106,758,415 - 106,780,912 (+)NCBI Archive
HuRefX96,496,454 - 96,518,960 (+)ENTREZGENE
CHM1_1X106,782,575 - 106,805,177 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002755   ⟸   NM_002764
- Peptide Label: isoform 1
- UniProtKB: P60891 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001191331   ⟸   NM_001204402
- Peptide Label: isoform 2
- UniProtKB: P60891 (UniProtKB/Swiss-Prot),   B7ZB02 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000361505   ⟸   ENST00000372428
RefSeq Acc Id: ENSP00000361512   ⟸   ENST00000372435
RefSeq Acc Id: ENSP00000361495   ⟸   ENST00000372418
RefSeq Acc Id: ENSP00000361496   ⟸   ENST00000372419
RefSeq Acc Id: ENSP00000496286   ⟸   ENST00000643795
RefSeq Acc Id: ENSP00000495493   ⟸   ENST00000644642
RefSeq Acc Id: ENSP00000496554   ⟸   ENST00000645638
RefSeq Acc Id: ENSP00000495801   ⟸   ENST00000646815
RefSeq Acc Id: ENSP00000502278   ⟸   ENST00000674826
RefSeq Acc Id: ENSP00000502260   ⟸   ENST00000674843
RefSeq Acc Id: ENSP00000501721   ⟸   ENST00000675720
RefSeq Acc Id: ENSP00000502050   ⟸   ENST00000675630
RefSeq Acc Id: ENSP00000502707   ⟸   ENST00000675921
RefSeq Acc Id: ENSP00000502070   ⟸   ENST00000675875
RefSeq Acc Id: ENSP00000502149   ⟸   ENST00000675353
RefSeq Acc Id: ENSP00000502081   ⟸   ENST00000675263
RefSeq Acc Id: ENSP00000502439   ⟸   ENST00000675124
RefSeq Acc Id: ENSP00000502347   ⟸   ENST00000675082
RefSeq Acc Id: ENSP00000501767   ⟸   ENST00000675046
RefSeq Acc Id: ENSP00000502780   ⟸   ENST00000676092
RefSeq Acc Id: ENSP00000501550   ⟸   ENST00000676365
RefSeq Acc Id: ENSP00000501977   ⟸   ENST00000676322
Protein Domains
Pribosyltran   Pribosyltran_N

Promoters
RGD ID:6808733
Promoter ID:HG_KWN:67707
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000372419,   NM_002764,   UC010NPG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X106,758,179 - 106,758,679 (+)MPROMDB
RGD ID:6851814
Promoter ID:EP73712
Type:multiple initiation site
Name:HS_PRPS1
Description:Phosphoribosyl pyrophosphate synthetase 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36X106,758,396 - 106,758,456EPD
RGD ID:13627802
Promoter ID:EPDNEW_H29176
Type:initiation region
Name:PRPS1_1
Description:phosphoribosyl pyrophosphate synthetase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,628,515 - 107,628,575EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002764.3(PRPS1):c.336T>C (p.Val112=) single nucleotide variant Arts syndrome [RCV000020486] ChrX:107640931 [GRCh38]
ChrX:106884161 [GRCh37]
ChrX:Xq22.3
benign
NM_002764.3(PRPS1):c.447G>A (p.Pro149=) single nucleotide variant Arts syndrome [RCV000020488]|Charcot-Marie-Tooth Neuropathy X [RCV000551005]|Deafness, X-linked 1 [RCV000337089]|History of neurodevelopmental disorder [RCV000721097]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000351270]|not specified [RCV000440183] ChrX:107642407 [GRCh38]
ChrX:106885637 [GRCh37]
ChrX:Xq22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002764.3(PRPS1):c.341A>G (p.Asn114Ser) single nucleotide variant Arts syndrome [RCV001328985]|Inborn genetic diseases [RCV000622306]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000010606] ChrX:107640936 [GRCh38]
ChrX:106884166 [GRCh37]
ChrX:Xq22.3
pathogenic|likely pathogenic
NM_001204402.1(PRPS1):c.-66G>C single nucleotide variant Phosphoribosylpyrophosphate synthetase superactivity [RCV000010607] ChrX:107645193 [GRCh38]
ChrX:106888423 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_001204402.1(PRPS1):c.-82-5851G>C single nucleotide variant Phosphoribosylpyrophosphate synthetase superactivity [RCV000010608] ChrX:107639326 [GRCh38]
ChrX:106882556 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_001204402.1(PRPS1):c.-82-4197C>A single nucleotide variant Phosphoribosylpyrophosphate synthetase superactivity [RCV000010609] ChrX:107640980 [GRCh38]
ChrX:106884210 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_001204402.1(PRPS1):c.-44C>T single nucleotide variant Phosphoribosylpyrophosphate synthetase superactivity [RCV000010610] ChrX:107645215 [GRCh38]
ChrX:106888445 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_001204402.1(PRPS1):c.-34C>G single nucleotide variant Phosphoribosylpyrophosphate synthetase superactivity [RCV000010611] ChrX:107645225 [GRCh38]
ChrX:106888455 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp) single nucleotide variant Charcot-Marie-Tooth disease, X-linked recessive, type 5 [RCV000010612] ChrX:107639301 [GRCh38]
ChrX:106882531 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.3(PRPS1):c.344T>C (p.Met115Thr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000695028]|Charcot-Marie-Tooth disease, X-linked recessive, type 5 [RCV000010613] ChrX:107640939 [GRCh38]
ChrX:106884169 [GRCh37]
ChrX:Xq22.3
pathogenic|likely pathogenic
NM_002764.3(PRPS1):c.455T>C (p.Leu152Pro) single nucleotide variant Arts syndrome [RCV000010614]|not provided [RCV000178182] ChrX:107642415 [GRCh38]
ChrX:106885645 [GRCh37]
ChrX:Xq22.3
pathogenic|uncertain significance
NM_002764.3(PRPS1):c.398A>C (p.Gln133Pro) single nucleotide variant Arts syndrome [RCV000010615] ChrX:107640993 [GRCh38]
ChrX:106884223 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_001204402.1(PRPS1):c.-82-5812G>A single nucleotide variant Deafness, X-linked 1 [RCV000010616] ChrX:107639365 [GRCh38]
ChrX:106882595 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_001204402.1(PRPS1):c.-82-5746G>A single nucleotide variant Deafness, X-linked 1 [RCV000010617] ChrX:107639431 [GRCh38]
ChrX:106882661 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.3(PRPS1):c.916G>A (p.Gly306Arg) single nucleotide variant Deafness, X-linked 1 [RCV000010618] ChrX:107649991 [GRCh38]
ChrX:106893221 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.3(PRPS1):c.869T>C (p.Ile290Thr) single nucleotide variant Deafness, X-linked 1 [RCV000010619] ChrX:107649944 [GRCh38]
ChrX:106893174 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.3(PRPS1):c.301G>A (p.Asp101Asn) single nucleotide variant not provided [RCV000523068] ChrX:107639473 [GRCh38]
ChrX:106882703 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_001204402.1(PRPS1):c.-82-2793G>C single nucleotide variant Arts syndrome [RCV000022882] ChrX:107642384 [GRCh38]
ChrX:106885614 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_001204402.1(PRPS1):c.-82-4220C>G single nucleotide variant Charcot-Marie-Tooth disease, X-linked recessive, type 5 [RCV000087131] ChrX:107640957 [GRCh38]
ChrX:106884187 [GRCh37]
ChrX:Xq22.3
pathogenic
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 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 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
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 Xq22.1-22.3(chrX:102070552-108264804)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|See cases [RCV000051716] ChrX:102070552..108264804 [GRCh38]
ChrX:101325524..107508034 [GRCh37]
ChrX:101212180..107394690 [NCBI36]
ChrX:Xq22.1-22.3
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 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 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:101620923-107632397)x3 copy number gain See cases [RCV000052441] ChrX:101620923..107632397 [GRCh38]
ChrX:100875913..106875627 [GRCh37]
ChrX:100762569..106762283 [NCBI36]
ChrX:Xq22.1-22.3
pathogenic
GRCh38/hg38 Xq22.3(chrX:107523862-108265579)x3 copy number gain See cases [RCV000052443] ChrX:107523862..108265579 [GRCh38]
ChrX:106767092..107508809 [GRCh37]
ChrX:106653748..107395465 [NCBI36]
ChrX:Xq22.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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_002764.4(PRPS1):c.477C>T (p.Ile159=) single nucleotide variant Arts syndrome [RCV000308646]|Charcot-Marie-Tooth Neuropathy X [RCV000204144]|Deafness, X-linked 1 [RCV000362584]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000402522]|not specified [RCV000080032] ChrX:107642437 [GRCh38]
ChrX:106885667 [GRCh37]
ChrX:Xq22.3
benign|likely benign|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_002764.3(PRPS1):c.337G>T (p.Ala113Ser) single nucleotide variant Deafness, X-linked 1 [RCV000143857] ChrX:107640932 [GRCh38]
ChrX:106884162 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.3(PRPS1):c.343A>G (p.Met115Val) single nucleotide variant Charcot-Marie-Tooth disease, X-linked recessive, type 5 [RCV000143859]|Deafness, X-linked 1 [RCV000143858] ChrX:107640938 [GRCh38]
ChrX:106884168 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.3(PRPS1):c.925G>T (p.Val309Phe) single nucleotide variant Charcot-Marie-Tooth disease, X-linked recessive, type 5 [RCV000143860] ChrX:107650000 [GRCh38]
ChrX:106893230 [GRCh37]
ChrX:Xq22.3
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-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 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 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 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 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 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 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23
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 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: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 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 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 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 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 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 Xq21.1-28(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 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 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 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23
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 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 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 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 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_002764.4(PRPS1):c.456A>G (p.Leu152=) single nucleotide variant Arts syndrome [RCV000393656]|Charcot-Marie-Tooth Neuropathy X [RCV001084842]|Deafness, X-linked 1 [RCV000393649]|History of neurodevelopmental disorder [RCV000720978]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000283249]|not provided [RCV000757690]|not specified [RCV000151682] ChrX:107642416 [GRCh38]
ChrX:106885646 [GRCh37]
ChrX:Xq22.3
benign|likely benign
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
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 Xq22.3(chrX:106791412-107059976)x3 copy number gain See cases [RCV000240159] ChrX:106791412..107059976 [GRCh37]
ChrX:Xq22.3
uncertain significance
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_002764.4(PRPS1):c.864+10A>G single nucleotide variant not specified [RCV000219582] ChrX:107647775 [GRCh38]
ChrX:106891005 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.3(PRPS1):c.247A>T (p.Ser83Cys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654845]|not provided [RCV000217138] ChrX:107639419 [GRCh38]
ChrX:106882649 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.3(PRPS1):c.830A>C (p.Gln277Pro) single nucleotide variant Arts syndrome [RCV000208743]|Deafness, X-linked 1 [RCV000208721] ChrX:107647731 [GRCh38]
ChrX:106890961 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_001204402.1(PRPS1):c.-159T>C single nucleotide variant Charcot-Marie-Tooth disease, X-linked recessive, type 5 [RCV000208733] ChrX:107628674 [GRCh38]
ChrX:106871904 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.4(PRPS1):c.942C>T (p.Ser314=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000474888]|not provided [RCV001200509]|not specified [RCV000222584] ChrX:107650017 [GRCh38]
ChrX:106893247 [GRCh37]
ChrX:Xq22.3
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
pathogenic
NM_002764.3(PRPS1):c.876C>T (p.Ile292=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000229280] ChrX:107649951 [GRCh38]
ChrX:106893181 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.3(PRPS1):c.319A>G (p.Ile107Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001319152]|not provided [RCV000235705] ChrX:107640914 [GRCh38]
ChrX:106884144 [GRCh37]
ChrX:Xq22.3
likely pathogenic|uncertain significance
NM_002764.3(PRPS1):c.361G>A (p.Ala121Thr) single nucleotide variant not provided [RCV000236738] ChrX:107640956 [GRCh38]
ChrX:106884186 [GRCh37]
ChrX:Xq22.3
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
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 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
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 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002764.3(PRPS1):c.*725T>C single nucleotide variant Arts syndrome [RCV000349093]|Deafness, X-linked 1 [RCV000384374]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000291842] ChrX:107650757 [GRCh38]
ChrX:106893987 [GRCh37]
ChrX:Xq22.3
benign|likely benign
NM_002764.3(PRPS1):c.-153del deletion Arts syndrome [RCV000325171]|Charcot-Marie-Tooth, X-linked [RCV000359974]|Nonsyndromic Hearing Loss, X-Linked [RCV000384451]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000270057] ChrX:107628476 [GRCh38]
ChrX:106871706 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.3(PRPS1):c.444G>A (p.Glu148=) single nucleotide variant Arts syndrome [RCV000271803]|Charcot-Marie-Tooth Neuropathy X [RCV000870451]|Deafness, X-linked 1 [RCV000296329]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000386019] ChrX:107642404 [GRCh38]
ChrX:106885634 [GRCh37]
ChrX:Xq22.3
benign|likely benign
NM_002764.3(PRPS1):c.*88C>T single nucleotide variant Arts syndrome [RCV000368028]|Deafness, X-linked 1 [RCV000333212]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000273461] ChrX:107650120 [GRCh38]
ChrX:106893350 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.3(PRPS1):c.*389G>C single nucleotide variant Arts syndrome [RCV000367849]|Deafness, X-linked 1 [RCV000314394]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000313159] ChrX:107650421 [GRCh38]
ChrX:106893651 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.3(PRPS1):c.*166G>A single nucleotide variant Arts syndrome [RCV000322205]|Deafness, X-linked 1 [RCV000287026]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000341919] ChrX:107650198 [GRCh38]
ChrX:106893428 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.3(PRPS1):c.*178G>A single nucleotide variant Arts syndrome [RCV000288158]|Deafness, X-linked 1 [RCV000347733]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000407006] ChrX:107650210 [GRCh38]
ChrX:106893440 [GRCh37]
ChrX:Xq22.3
benign|likely benign
NM_002764.3(PRPS1):c.*762G>T single nucleotide variant Arts syndrome [RCV000295229]|Deafness, X-linked 1 [RCV000387246]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000352475] ChrX:107650794 [GRCh38]
ChrX:106894024 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.3(PRPS1):c.*538G>C single nucleotide variant Arts syndrome [RCV000358765]|Deafness, X-linked 1 [RCV000260234]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000355125] ChrX:107650570 [GRCh38]
ChrX:106893800 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.3(PRPS1):c.*159G>A single nucleotide variant Arts syndrome [RCV000375137]|Deafness, X-linked 1 [RCV000260549]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000315849] ChrX:107650191 [GRCh38]
ChrX:106893421 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.3(PRPS1):c.*938dup duplication Arts syndrome [RCV000408417]|Charcot-Marie-Tooth, X-linked [RCV000301980]|Nonsyndromic Hearing Loss, X-Linked [RCV000298617]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000337290] ChrX:107650964..107650965 [GRCh38]
ChrX:106894194..106894195 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.3(PRPS1):c.*538G>T single nucleotide variant Arts syndrome [RCV000263927]|Deafness, X-linked 1 [RCV000323892]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000288766] ChrX:107650570 [GRCh38]
ChrX:106893800 [GRCh37]
ChrX:Xq22.3
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_002764.3(PRPS1):c.640C>T (p.Arg214Trp) single nucleotide variant Phosphoribosylpyrophosphate synthetase superactivity [RCV001196872]|Retinal dystrophy [RCV000590916]|Retinal dystrophy [RCV001075877] ChrX:107645286 [GRCh38]
ChrX:106888516 [GRCh37]
ChrX:Xq22.3
likely pathogenic
NM_002764.3(PRPS1):c.47C>T (p.Ser16Phe) single nucleotide variant Retinal dystrophy [RCV000590944] ChrX:107628675 [GRCh38]
ChrX:106871905 [GRCh37]
ChrX:Xq22.3
likely pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001204402.1(PRPS1):c.-113del deletion not provided [RCV000599589] ChrX:107628720 [GRCh38]
ChrX:106871950 [GRCh37]
ChrX:Xq22.3
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-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 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
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: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-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 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 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002764.3(PRPS1):c.177T>A (p.Gly59=) single nucleotide variant not specified [RCV000428486] ChrX:107639349 [GRCh38]
ChrX:106882579 [GRCh37]
ChrX:Xq22.3
likely benign
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_002764.3(PRPS1):c.705-6C>T single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000863918]|not specified [RCV000433153] ChrX:107647600 [GRCh38]
ChrX:106890830 [GRCh37]
ChrX:Xq22.3
benign|likely benign
NM_002764.3(PRPS1):c.288G>A (p.Arg96=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000867248]|not specified [RCV000423207] ChrX:107639460 [GRCh38]
ChrX:106882690 [GRCh37]
ChrX:Xq22.3
benign|likely benign
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
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 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 Xq22.2-23(chrX:103158718-111556067)x2 copy number gain See cases [RCV000448592] ChrX:103158718..111556067 [GRCh37]
ChrX:Xq22.2-23
pathogenic
NM_002764.4(PRPS1):c.123-16dup duplication not specified [RCV000480712] ChrX:107639276..107639277 [GRCh38]
ChrX:106882506..106882507 [GRCh37]
ChrX:Xq22.3
likely benign
NM_001204402.1(PRPS1):c.-249_-247AGC[3] microsatellite not specified [RCV000481562] ChrX:107628581..107628582 [GRCh38]
ChrX:106871811..106871812 [GRCh37]
ChrX:Xq22.3
likely benign
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 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_002764.3(PRPS1):c.779G>A (p.Arg260His) single nucleotide variant not provided [RCV000494382] ChrX:107647680 [GRCh38]
ChrX:106890910 [GRCh37]
ChrX:Xq22.3
pathogenic|uncertain significance
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 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|uncertain significance
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
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 Xq22.3(chrX:106344740-107015682)x2 copy number gain See cases [RCV000511210] ChrX:106344740..107015682 [GRCh37]
ChrX:Xq22.3
uncertain significance
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 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
NM_002764.3(PRPS1):c.456A>C (p.Leu152=) single nucleotide variant not provided [RCV000524741] ChrX:107642416 [GRCh38]
ChrX:106885646 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.3(PRPS1):c.586C>T (p.Arg196Trp) single nucleotide variant Retinal dystrophy [RCV000590871] ChrX:107645232 [GRCh38]
ChrX:106888462 [GRCh37]
ChrX:Xq22.3
likely pathogenic
NM_002764.3(PRPS1):c.307-2A>G single nucleotide variant Inborn genetic diseases [RCV000623501] ChrX:107640900 [GRCh38]
ChrX:106884130 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.3(PRPS1):c.530+1G>A single nucleotide variant Inborn genetic diseases [RCV000624323] ChrX:107642491 [GRCh38]
ChrX:106885721 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.3(PRPS1):c.573G>A (p.Leu191=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654856]|not specified [RCV000610806] ChrX:107645219 [GRCh38]
ChrX:106888449 [GRCh37]
ChrX:Xq22.3
benign|likely benign
NM_002764.3(PRPS1):c.60T>C (p.Ala20=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654855] ChrX:107628688 [GRCh38]
ChrX:106871918 [GRCh37]
ChrX:Xq22.3
likely benign
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
NM_002764.3(PRPS1):c.641G>C (p.Arg214Pro) single nucleotide variant Retinal dystrophy [RCV000590950] ChrX:107645287 [GRCh38]
ChrX:106888517 [GRCh37]
ChrX:Xq22.3
likely 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 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NC_000023.10:g.(?_106871839)_(106893282_?)dup duplication Charcot-Marie-Tooth Neuropathy X [RCV000707764] ChrX:107628609..107650052 [GRCh38]
ChrX:106871839..106893282 [GRCh37]
ChrX:Xq22.3
uncertain significance
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 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: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
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_002764.4(PRPS1):c.720C>T (p.Gly240=) single nucleotide variant Arts syndrome [RCV001167812]|Charcot-Marie-Tooth Neuropathy X [RCV000869476]|Deafness, X-linked 1 [RCV001169684]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001169683] ChrX:107647621 [GRCh38]
ChrX:106890851 [GRCh37]
ChrX:Xq22.3
benign|likely benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_002764.4(PRPS1):c.*389G>A single nucleotide variant Arts syndrome [RCV001167289]|Deafness, X-linked 1 [RCV001167287]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001167288] ChrX:107650421 [GRCh38]
ChrX:106893651 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.732T>G (p.Val244=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001058002] ChrX:107647633 [GRCh38]
ChrX:106890863 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.530+10A>G single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000920365] ChrX:107642500 [GRCh38]
ChrX:106885730 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.78G>A (p.Glu26=) single nucleotide variant not provided [RCV000944587] ChrX:107628706 [GRCh38]
ChrX:106871936 [GRCh37]
ChrX:Xq22.3
likely benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_002764.4(PRPS1):c.25G>C (p.Gly9Arg) single nucleotide variant not provided [RCV000995994] ChrX:107628653 [GRCh38]
ChrX:106871883 [GRCh37]
ChrX:Xq22.3
likely 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
NM_002764.4(PRPS1):c.900C>T (p.Ile300=) single nucleotide variant not provided [RCV000929282] ChrX:107649975 [GRCh38]
ChrX:106893205 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.567T>C (p.Phe189=) single nucleotide variant not provided [RCV000898799] ChrX:107645213 [GRCh38]
ChrX:106888443 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.924C>T (p.Ser308=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000874794] ChrX:107649999 [GRCh38]
ChrX:106893229 [GRCh37]
ChrX:Xq22.3
benign
NM_002764.4(PRPS1):c.870T>C (p.Ile290=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000866607] ChrX:107649945 [GRCh38]
ChrX:106893175 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.3(PRPS1):c.531-74C>T single nucleotide variant not provided [RCV000835688] ChrX:107645103 [GRCh38]
ChrX:106888333 [GRCh37]
ChrX:Xq22.3
benign
NM_002764.3(PRPS1):c.122+254C>T single nucleotide variant not provided [RCV000832736] ChrX:107629004 [GRCh38]
ChrX:106872234 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.3(PRPS1):c.43T>C (p.Leu15=) single nucleotide variant not provided [RCV000840901] ChrX:107628671 [GRCh38]
ChrX:106871901 [GRCh37]
ChrX:Xq22.3
likely benign
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_002764.3(PRPS1):c.865-234C>T single nucleotide variant not provided [RCV000832330] ChrX:107649706 [GRCh38]
ChrX:106892936 [GRCh37]
ChrX:Xq22.3
benign
NM_002764.3(PRPS1):c.272G>A (p.Cys91Tyr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000805354] ChrX:107639444 [GRCh38]
ChrX:106882674 [GRCh37]
ChrX:Xq22.3
uncertain significance
NC_000023.10:g.(?_106871849)_(106893272_?)dup duplication Charcot-Marie-Tooth Neuropathy X [RCV000803916] ChrX:107628619..107650042 [GRCh38]
ChrX:106871849..106893272 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.*158C>T single nucleotide variant Arts syndrome [RCV001165700]|Deafness, X-linked 1 [RCV001165699]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001165698] ChrX:107650190 [GRCh38]
ChrX:106893420 [GRCh37]
ChrX:Xq22.3
benign
NM_002764.4(PRPS1):c.12C>T (p.Ile4=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000899541]|not specified [RCV000825221] ChrX:107628640 [GRCh38]
ChrX:106871870 [GRCh37]
ChrX:Xq22.3
benign|likely benign
NM_002764.4(PRPS1):c.395C>T (p.Ser132Phe) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001324115]|not provided [RCV001090394] ChrX:107640990 [GRCh38]
ChrX:106884220 [GRCh37]
ChrX:Xq22.3
likely pathogenic|uncertain significance
GRCh37/hg19 Xq22.3(chrX:106423942-106937868)x2 copy number gain not provided [RCV000847737] ChrX:106423942..106937868 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq22.3-23(chrX:105973323-110619655)x1 copy number loss not provided [RCV001007332] ChrX:105973323..110619655 [GRCh37]
ChrX:Xq22.3-23
likely 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 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
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_002764.4(PRPS1):c.433T>G (p.Leu145Val) single nucleotide variant Phosphoribosylpyrophosphate synthetase superactivity [RCV000995614] ChrX:107642393 [GRCh38]
ChrX:106885623 [GRCh37]
ChrX:Xq22.3
likely pathogenic
NM_002764.4(PRPS1):c.*726C>T single nucleotide variant Arts syndrome [RCV001167359]|Deafness, X-linked 1 [RCV001167357]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001167358] ChrX:107650758 [GRCh38]
ChrX:106893988 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.508C>T (p.Pro170Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001212370] ChrX:107642468 [GRCh38]
ChrX:106885698 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.183C>T (p.Gly61=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000874565] ChrX:107639355 [GRCh38]
ChrX:106882585 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.422C>T (p.Pro141Leu) single nucleotide variant Arts syndrome [RCV000984484] ChrX:107642382 [GRCh38]
ChrX:106885612 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.660T>C (p.Asp220=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000875739] ChrX:107645306 [GRCh38]
ChrX:106888536 [GRCh37]
ChrX:Xq22.3
benign
NM_002764.4(PRPS1):c.*137C>T single nucleotide variant Arts syndrome [RCV001169686]|Deafness, X-linked 1 [RCV001169685]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001169687] ChrX:107650169 [GRCh38]
ChrX:106893399 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.359G>T (p.Gly120Val) single nucleotide variant Phosphoribosylpyrophosphate synthetase superactivity [RCV000990923] ChrX:107640954 [GRCh38]
ChrX:106884184 [GRCh37]
ChrX:Xq22.3
likely pathogenic
NM_002764.4(PRPS1):c.*423T>A single nucleotide variant Arts syndrome [RCV001167886]|Deafness, X-linked 1 [RCV001167885]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001167884] ChrX:107650455 [GRCh38]
ChrX:106893685 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.827C>T (p.Pro276Leu) single nucleotide variant Retinal dystrophy [RCV001075223] ChrX:107647728 [GRCh38]
ChrX:106890958 [GRCh37]
ChrX:Xq22.3
likely pathogenic
NM_002764.4(PRPS1):c.*508G>C single nucleotide variant Arts syndrome [RCV001167889]|Deafness, X-linked 1 [RCV001167888]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001167887] ChrX:107650540 [GRCh38]
ChrX:106893770 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.*608C>T single nucleotide variant Arts syndrome [RCV001165778]|Deafness, X-linked 1 [RCV001165777]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001165776] ChrX:107650640 [GRCh38]
ChrX:106893870 [GRCh37]
ChrX:Xq22.3
uncertain significance
NC_000023.11:g.(?_107628619)_(108696388_?)del deletion not provided [RCV001032756] ChrX:106871849..107939618 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.4(PRPS1):c.610C>T (p.Arg204Cys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001047338] ChrX:107645256 [GRCh38]
ChrX:106888486 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.*539G>C single nucleotide variant Arts syndrome [RCV001169755]|Deafness, X-linked 1 [RCV001165772]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001169754] ChrX:107650571 [GRCh38]
ChrX:106893801 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.*539G>T single nucleotide variant Arts syndrome [RCV001165775]|Deafness, X-linked 1 [RCV001165773]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001165774] ChrX:107650571 [GRCh38]
ChrX:106893801 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xq22.3(chrX:106479615-107575960)x3 copy number gain not provided [RCV001259490] ChrX:106479615..107575960 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
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:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_002764.4(PRPS1):c.842T>G (p.Met281Arg) single nucleotide variant Arts syndrome [RCV001334081] ChrX:107647743 [GRCh38]
ChrX:106890973 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.69G>A (p.Leu23=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001297710] ChrX:107628697 [GRCh38]
ChrX:106871927 [GRCh37]
ChrX:Xq22.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9462 AgrOrtholog
COSMIC PRPS1 COSMIC
Ensembl Genes ENSG00000147224 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000361495 UniProtKB/TrEMBL
  ENSP00000361496 UniProtKB/TrEMBL
  ENSP00000361505 UniProtKB/TrEMBL
  ENSP00000361512 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000495493 UniProtKB/TrEMBL
  ENSP00000495801 UniProtKB/TrEMBL
  ENSP00000496286 UniProtKB/TrEMBL
  ENSP00000496554 UniProtKB/TrEMBL
  ENSP00000501550 UniProtKB/TrEMBL
  ENSP00000501721 UniProtKB/TrEMBL
  ENSP00000501767 UniProtKB/TrEMBL
  ENSP00000501977 UniProtKB/TrEMBL
  ENSP00000502050 UniProtKB/TrEMBL
  ENSP00000502070 UniProtKB/TrEMBL
  ENSP00000502081 UniProtKB/TrEMBL
  ENSP00000502149 UniProtKB/TrEMBL
  ENSP00000502260 UniProtKB/TrEMBL
  ENSP00000502278 UniProtKB/TrEMBL
  ENSP00000502347 UniProtKB/TrEMBL
  ENSP00000502439 UniProtKB/TrEMBL
  ENSP00000502707 UniProtKB/TrEMBL
  ENSP00000502780 UniProtKB/TrEMBL
Ensembl Transcript ENST00000372418 UniProtKB/TrEMBL
  ENST00000372419 UniProtKB/TrEMBL
  ENST00000372428 UniProtKB/TrEMBL
  ENST00000372435 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000643795 UniProtKB/TrEMBL
  ENST00000644642 UniProtKB/TrEMBL
  ENST00000645638 UniProtKB/TrEMBL
  ENST00000646815 UniProtKB/TrEMBL
  ENST00000674826 UniProtKB/TrEMBL
  ENST00000674843 UniProtKB/TrEMBL
  ENST00000675046 UniProtKB/TrEMBL
  ENST00000675082 UniProtKB/TrEMBL
  ENST00000675124 UniProtKB/TrEMBL
  ENST00000675263 UniProtKB/TrEMBL
  ENST00000675353 UniProtKB/TrEMBL
  ENST00000675630 UniProtKB/TrEMBL
  ENST00000675720 UniProtKB/TrEMBL
  ENST00000675875 UniProtKB/TrEMBL
  ENST00000675921 UniProtKB/TrEMBL
  ENST00000676092 UniProtKB/TrEMBL
  ENST00000676322 UniProtKB/TrEMBL
  ENST00000676365 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.2020 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147224 GTEx
HGNC ID HGNC:9462 ENTREZGENE
Human Proteome Map PRPS1 Human Proteome Map
InterPro PRib_PP_synth_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pribosyltran_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRibTrfase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRTase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rib-P_diPkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rib-P_diPkinase_bac UniProtKB/Swiss-Prot
KEGG Report hsa:5631 UniProtKB/Swiss-Prot
NCBI Gene 5631 ENTREZGENE
OMIM 300661 OMIM
  301835 OMIM
  304500 OMIM
  311070 OMIM
  311850 OMIM
PANTHER PTHR10210 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Pribosyl_synth UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pribosyltran UniProtKB/TrEMBL
  Pribosyltran_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33817 PharmGKB, RGD
PROSITE PRPP_SYNTHASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53271 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs ribP_PPkin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MRQ9_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7H4_HUMAN UniProtKB/TrEMBL
  A0A6Q8PEU0_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFD1_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFD7_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG13_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG31_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG33_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG82_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGF9_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGP2_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGX9_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHI4_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHK9_HUMAN UniProtKB/TrEMBL
  B1ALA7_HUMAN UniProtKB/TrEMBL
  B1ALA9_HUMAN UniProtKB/TrEMBL
  B7ZB02 ENTREZGENE, UniProtKB/TrEMBL
  P60891 ENTREZGENE, UniProtKB/Swiss-Prot
  Q15244_HUMAN UniProtKB/TrEMBL
UniProt Secondary B1ALA8 UniProtKB/Swiss-Prot
  B2R6T7 UniProtKB/Swiss-Prot
  B4DNL6 UniProtKB/Swiss-Prot
  D3DUX6 UniProtKB/Swiss-Prot
  P09329 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-09 PRPS1  phosphoribosyl pyrophosphate synthetase 1  DFN2  deafness, X-linked 2, perceptive, congenital  Data Merged 737654 PROVISIONAL