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:9462
Description: Enables ATP binding activity; protein homodimerization activity; and ribose phosphate diphosphokinase activity. Involved in nervous system development and purine-containing compound biosynthetic process. Predicted to be located in membrane. Predicted to be part of ribose phosphate diphosphokinase complex. Predicted to be active in cytosol. Implicated in Arts syndrome; X-linked deafness 1; X-linked recessive disease (multiple); gout; and retinitis pigmentosa.
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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
GRCh38X107,628,510 - 107,651,026 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX107,628,428 - 107,651,993 (+)EnsemblGRCh38hg38GRCh38
GRCh37X106,871,740 - 106,894,256 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X106,758,415 - 106,780,912 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X106,677,903 - 106,700,400NCBI
CeleraX107,343,160 - 107,365,584 (+)NCBICelera
Cytogenetic MapXq22.3NCBI
HuRefX96,496,454 - 96,518,960 (+)NCBIHuRef
CHM1_1X106,782,575 - 106,805,177 (+)NCBICHM1_1
T2T-CHM13v2.0X106,065,274 - 106,087,791 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(S)-nicotine  (EXP)
(Z)-3-butylidenephthalide  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3-methylcholanthrene  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
butan-1-ol  (EXP)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cannabidiol  (EXP)
chloroacetaldehyde  (EXP)
cidofovir anhydrous  (EXP)
clofibrate  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
cyclosporin A  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
genistein  (ISO)
ivermectin  (EXP)
lead diacetate  (ISO)
methidathion  (ISO)
nefazodone  (ISO)
nicotine  (EXP)
nimesulide  (ISO)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
rimonabant  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sunitinib  (EXP)
tamibarotene  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP,ISO)
topotecan  (ISO)
trimellitic anhydride  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)

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 facial shape  (IAGP)
Abnormal nerve conduction velocity  (IAGP)
Abnormality of somatosensory evoked potentials  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the nervous system  (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)
Arthritis  (IAGP)
Ataxia  (IAGP)
Autism  (IAGP)
Axial hypotonia  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Blindness  (IAGP)
Central sleep apnea  (IAGP)
Childhood onset  (IAGP)
Clonus  (IAGP)
Congenital onset  (IAGP)
Congenital sensorineural hearing impairment  (IAGP)
Constriction of peripheral visual field  (IAGP)
Convex nasal ridge  (IAGP)
Cryptorchidism  (IAGP)
Crystalluria  (IAGP)
Death in childhood  (IAGP)
Death in infancy  (IAGP)
Decreased motor nerve conduction velocity  (IAGP)
Decreased phosphoribosylpyrophosphate synthetase level  (IAGP)
Deeply set eye  (IAGP)
Delayed myelination  (IAGP)
Depressed nasal bridge  (IAGP)
Diabetes insipidus  (IAGP)
Distal amyotrophy  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Dolichocephaly  (IAGP)
Downslanted palpebral fissures  (IAGP)
Drooling  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
EEG with focal epileptiform discharges  (IAGP)
Elevated amniotic fluid alpha-fetoprotein  (IAGP)
EMG: chronic denervation signs  (IAGP)
Epicanthus  (IAGP)
Excessive daytime somnolence  (IAGP)
Exotropia  (IAGP)
Gait disturbance  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Gout  (IAGP)
Growth delay  (IAGP)
HbH hemoglobin  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
Hyperactive deep tendon reflexes  (IAGP)
Hypermetropia  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hyperuricemia  (IAGP)
Hyperuricosuria  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypospadias  (IAGP)
Hypotelorism  (IAGP)
Hypotonia  (IAGP)
Hypouricemia  (IAGP)
Immunodeficiency  (IAGP)
Impaired pain sensation  (IAGP)
Increased phosphoribosylpyrophosphate synthetase level  (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)
Mutism  (IAGP)
Myopia  (IAGP)
Neck muscle weakness  (IAGP)
Neonatal hypotonia  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Onion bulb formation  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Paraparesis  (IAGP)
Peripheral axonal neuropathy  (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)
Prominent forehead  (IAGP)
Ptosis  (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)
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 nose  (IAGP)
Short stature  (IAGP)
Skeletal muscle hypertrophy  (IAGP)
Slow pupillary light response  (IAGP)
Small for gestational age  (IAGP)
Sparse hair  (IAGP)
Spastic tetraparesis  (IAGP)
Spinal cord posterior columns myelin loss  (IAGP)
Stage 4 chronic kidney disease  (IAGP)
Strabismus  (IAGP)
Tetraplegia  (IAGP)
Tremor  (IAGP)
Triangular face  (IAGP)
Underdeveloped nasal alae  (IAGP)
Undetectable visual evoked potentials  (IAGP)
Uric acid nephrolithiasis  (IAGP)
Urolithiasis  (IAGP)
Variable expressivity  (IAGP)
Visual impairment  (IAGP)
Visual loss  (IAGP)
Wide mouth  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. Almoguera B, etal., Orphanet J Rare Dis. 2014 Dec 10;9:190. doi: 10.1186/s13023-014-0190-9.
2. The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity. Becker MA, etal., J Clin Invest. 1995 Nov;96(5):2133-41.
3. Pediatric neurological syndromes and inborn errors of purine metabolism. Camici M, etal., Neurochem Int. 2010 Feb;56(3):367-78. Epub 2009 Dec 11.
4. Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling. Gandia M, etal., Pediatr Res. 2015 Jul;78(1):97-102. doi: 10.1038/pr.2015.56. Epub 2015 Mar 18.
5. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene. Roessler BJ, etal., J Biol Chem. 1993 Dec 15;268(35):26476-81.
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:28186131   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:31871319   PMID:31980649   PMID:32129710   PMID:32239614  
PMID:32296183   PMID:32391636   PMID:32640226   PMID:32781272   PMID:32807901   PMID:32814053   PMID:32929329   PMID:33105440   PMID:33144569   PMID:33493137   PMID:33660365   PMID:33729478  
PMID:33742100   PMID:33961781   PMID:34428256   PMID:34636169   PMID:34650049   PMID:34687317   PMID:34709727   PMID:34728620   PMID:34857952   PMID:35013218   PMID:35039981   PMID:35256949  
PMID:35271311   PMID:35356984   PMID:35446349   PMID:35509820   PMID:35831314   PMID:35831895   PMID:35844135   PMID:35944360   PMID:36042349   PMID:36057605   PMID:36114006   PMID:36180891  
PMID:36215168   PMID:36217030   PMID:36574265   PMID:36604567   PMID:36634849   PMID:37827155   PMID:38113892   PMID:38172120  


Genomics

Comparative Map Data
PRPS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X107,628,510 - 107,651,026 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX107,628,428 - 107,651,993 (+)EnsemblGRCh38hg38GRCh38
GRCh37X106,871,740 - 106,894,256 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X106,758,415 - 106,780,912 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X106,677,903 - 106,700,400NCBI
CeleraX107,343,160 - 107,365,584 (+)NCBICelera
Cytogenetic MapXq22.3NCBI
HuRefX96,496,454 - 96,518,960 (+)NCBIHuRef
CHM1_1X106,782,575 - 106,805,177 (+)NCBICHM1_1
T2T-CHM13v2.0X106,065,274 - 106,087,791 (+)NCBIT2T-CHM13v2.0
Prps1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X139,357,352 - 139,376,889 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX139,357,362 - 139,376,889 (+)EnsemblGRCm39 Ensembl
GRCm38X140,456,603 - 140,476,140 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX140,456,613 - 140,476,140 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X136,991,142 - 137,010,679 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X135,802,977 - 135,822,503 (+)NCBIMGSCv36mm8
CeleraX123,716,011 - 123,735,469 (+)NCBICelera
Cytogenetic MapXF1NCBI
cM MapX61.35NCBI
Prps1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X108,920,663 - 108,942,713 (+)NCBIGRCr8
mRatBN7.2X104,132,139 - 104,154,191 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX104,132,141 - 104,154,187 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX106,261,498 - 106,283,545 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X109,760,234 - 109,782,281 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X107,316,203 - 107,337,428 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X111,798,233 - 111,820,270 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX111,798,233 - 111,820,266 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0352,779,462 - 52,801,499 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X128,249,843 - 128,271,893 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
ChiLan1.0 EnsemblNW_0049554908,303,775 - 8,330,713 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554908,303,775 - 8,330,713 (-)NCBIChiLan1.0ChiLan1.0
PRPS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X107,104,116 - 107,126,928 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X107,107,719 - 107,130,532 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X96,720,988 - 96,743,594 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X107,094,898 - 107,117,117 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX107,094,898 - 107,117,117 (+)Ensemblpanpan1.1panPan2
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 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X82,796,457 - 82,817,447 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX82,796,456 - 82,817,446 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X80,256,666 - 80,277,657 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X81,968,332 - 81,989,524 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X81,759,859 - 81,781,048 (+)NCBIUU_Cfam_GSD_1.0
Prps1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X80,521,497 - 80,543,124 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364997,115,780 - 7,136,449 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364997,114,838 - 7,136,468 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRPS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX88,074,965 - 88,101,910 (+)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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X95,452,481 - 95,475,933 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606520,574,165 - 20,597,947 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in PRPS1
233 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002764.4(PRPS1):c.336T>C (p.Val112=) single nucleotide variant Inborn genetic diseases [RCV002451734] ChrX:107640931 [GRCh38]
ChrX:106884161 [GRCh37]
ChrX:Xq22.3
benign|likely benign
NM_002764.4(PRPS1):c.447G>A (p.Pro149=) single nucleotide variant Arts syndrome [RCV000020488]|Arts syndrome [RCV002490397]|Charcot-Marie-Tooth Neuropathy X [RCV000551005]|Hearing loss, X-linked 1 [RCV000337089]|History of neurodevelopmental disorder [RCV000721097]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000351270]|not provided [RCV001727515]|not specified [RCV000440183] ChrX:107642407 [GRCh38]
ChrX:106885637 [GRCh37]
ChrX:Xq22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002764.4(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_002764.4(PRPS1):c.547G>C (p.Asp183His) single nucleotide variant Arts syndrome [RCV003147280]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000010607] ChrX:107645193 [GRCh38]
ChrX:106888423 [GRCh37]
ChrX:Xq22.3
pathogenic|likely pathogenic
NM_002764.4(PRPS1):c.154G>C (p.Asp52His) single nucleotide variant Phosphoribosylpyrophosphate synthetase superactivity [RCV000010608] ChrX:107639326 [GRCh38]
ChrX:106882556 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.4(PRPS1):c.385C>A (p.Leu129Ile) single nucleotide variant Phosphoribosylpyrophosphate synthetase superactivity [RCV000010609] ChrX:107640980 [GRCh38]
ChrX:106884210 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.4(PRPS1):c.569C>T (p.Ala190Val) single nucleotide variant Phosphoribosylpyrophosphate synthetase superactivity [RCV000010610] ChrX:107645215 [GRCh38]
ChrX:106888445 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.4(PRPS1):c.579C>G (p.His193Gln) single nucleotide variant Phosphoribosylpyrophosphate synthetase superactivity [RCV000010611] ChrX:107645225 [GRCh38]
ChrX:106888455 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.4(PRPS1):c.129A>C (p.Glu43Asp) single nucleotide variant Charcot-Marie-Tooth disease X-linked recessive 5 [RCV000010612] ChrX:107639301 [GRCh38]
ChrX:106882531 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000695028]|Charcot-Marie-Tooth disease X-linked recessive 5 [RCV000010613] ChrX:107640939 [GRCh38]
ChrX:106884169 [GRCh37]
ChrX:Xq22.3
pathogenic|likely pathogenic
NM_002764.4(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_002764.4(PRPS1):c.398A>C (p.Gln133Pro) single nucleotide variant Arts syndrome [RCV000010615] ChrX:107640993 [GRCh38]
ChrX:106884223 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.4(PRPS1):c.193G>A (p.Asp65Asn) single nucleotide variant Hearing loss, X-linked 1 [RCV000010616] ChrX:107639365 [GRCh38]
ChrX:106882595 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.4(PRPS1):c.259G>A (p.Ala87Thr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001851782]|Hearing loss, X-linked 1 [RCV000010617] ChrX:107639431 [GRCh38]
ChrX:106882661 [GRCh37]
ChrX:Xq22.3
pathogenic|uncertain significance
NM_002764.4(PRPS1):c.916G>A (p.Gly306Arg) single nucleotide variant Hearing loss, X-linked 1 [RCV000010618] ChrX:107649991 [GRCh38]
ChrX:106893221 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.4(PRPS1):c.869T>C (p.Ile290Thr) single nucleotide variant Hearing loss, X-linked 1 [RCV000010619] ChrX:107649944 [GRCh38]
ChrX:106893174 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.4(PRPS1):c.762C>T (p.Ser254=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001494987] ChrX:107647663 [GRCh38]
ChrX:106890893 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.864+9G>C single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001494183] ChrX:107647774 [GRCh38]
ChrX:106891004 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.301G>A (p.Asp101Asn) single nucleotide variant not provided [RCV000523068] ChrX:107639473 [GRCh38]
ChrX:106882703 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.424G>C (p.Val142Leu) single nucleotide variant Arts syndrome [RCV000022882] ChrX:107642384 [GRCh38]
ChrX:106885614 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.4(PRPS1):c.362C>G (p.Ala121Gly) single nucleotide variant Charcot-Marie-Tooth disease X-linked recessive 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]|Arts syndrome [RCV002498407]|Charcot-Marie-Tooth Neuropathy X [RCV000204144]|Charcot-Marie-Tooth disease X-linked recessive 5 [RCV001789127]|Hearing loss, X-linked 1 [RCV000362584]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000402522]|not provided [RCV001664331]|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_002764.4(PRPS1):c.337G>T (p.Ala113Ser) single nucleotide variant Hearing loss, X-linked 1 [RCV000143857] ChrX:107640932 [GRCh38]
ChrX:106884162 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.4(PRPS1):c.343A>G (p.Met115Val) single nucleotide variant Charcot-Marie-Tooth disease X-linked recessive 5 [RCV000143859]|Hearing loss, X-linked 1 [RCV000143858] ChrX:107640938 [GRCh38]
ChrX:106884168 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.4(PRPS1):c.925G>T (p.Val309Phe) single nucleotide variant Charcot-Marie-Tooth disease X-linked recessive 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]|Hearing loss, 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 Charcot-Marie-Tooth Neuropathy X [RCV001519913]|not specified [RCV000219582] ChrX:107647775 [GRCh38]
ChrX:106891005 [GRCh37]
ChrX:Xq22.3
benign|likely benign
NM_002764.4(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_002764.4(PRPS1):c.830A>C (p.Gln277Pro) single nucleotide variant Arts syndrome [RCV000208743]|Hearing loss, X-linked 1 [RCV000208721] ChrX:107647731 [GRCh38]
ChrX:106890961 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.4(PRPS1):c.46T>C (p.Ser16Pro) single nucleotide variant Charcot-Marie-Tooth disease X-linked recessive 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]|Inborn genetic diseases [RCV002444856]|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_002764.4(PRPS1):c.876C>T (p.Ile292=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000229280]|not provided [RCV001636733] ChrX:107649951 [GRCh38]
ChrX:106893181 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(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_002764.4(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_002764.4(PRPS1):c.*725T>C single nucleotide variant Arts syndrome [RCV000349093]|Hearing loss, 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.-153delG deletion Arts syndrome [RCV000325171]|Charcot-Marie-Tooth, X-linked [RCV000359974]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000270057]|X-linked nonsyndromic hearing loss [RCV002223132] ChrX:107628476 [GRCh38]
ChrX:106871706 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.444G>A (p.Glu148=) single nucleotide variant Arts syndrome [RCV000271803]|Charcot-Marie-Tooth Neuropathy X [RCV000870451]|Hearing loss, X-linked 1 [RCV000296329]|Inborn genetic diseases [RCV002328895]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000386019] ChrX:107642404 [GRCh38]
ChrX:106885634 [GRCh37]
ChrX:Xq22.3
benign|likely benign
NM_002764.4(PRPS1):c.*88C>T single nucleotide variant Arts syndrome [RCV000368028]|Hearing loss, X-linked 1 [RCV000333212]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000273461] ChrX:107650120 [GRCh38]
ChrX:106893350 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.*389G>C single nucleotide variant Arts syndrome [RCV000367849]|Hearing loss, X-linked 1 [RCV000314394]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000313159] ChrX:107650421 [GRCh38]
ChrX:106893651 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.*166G>A single nucleotide variant Arts syndrome [RCV000322205]|Hearing loss, X-linked 1 [RCV000287026]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000341919] ChrX:107650198 [GRCh38]
ChrX:106893428 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.*178G>A single nucleotide variant Arts syndrome [RCV000288158]|Hearing loss, X-linked 1 [RCV000347733]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000407006] ChrX:107650210 [GRCh38]
ChrX:106893440 [GRCh37]
ChrX:Xq22.3
benign|likely benign
NM_002764.4(PRPS1):c.*762G>T single nucleotide variant Arts syndrome [RCV000295229]|Hearing loss, X-linked 1 [RCV000387246]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000352475] ChrX:107650794 [GRCh38]
ChrX:106894024 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.*538G>C single nucleotide variant Arts syndrome [RCV000358765]|Hearing loss, X-linked 1 [RCV000260234]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000355125] ChrX:107650570 [GRCh38]
ChrX:106893800 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.*159G>A single nucleotide variant Arts syndrome [RCV000375137]|Hearing loss, X-linked 1 [RCV000260549]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000315849] ChrX:107650191 [GRCh38]
ChrX:106893421 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.*938dup duplication Arts syndrome [RCV000408417]|Charcot-Marie-Tooth, X-linked [RCV000301980]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000337290]|X-linked nonsyndromic hearing loss [RCV002223133] ChrX:107650964..107650965 [GRCh38]
ChrX:106894194..106894195 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.*538G>T single nucleotide variant Arts syndrome [RCV000263927]|Hearing loss, 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_002764.4(PRPS1):c.640C>T (p.Arg214Trp) single nucleotide variant Arts syndrome [RCV001542719]|Charcot-Marie-Tooth Neuropathy X [RCV001865690]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001196872]|Retinal dystrophy [RCV000590916]|Retinal dystrophy [RCV001075877] ChrX:107645286 [GRCh38]
ChrX:106888516 [GRCh37]
ChrX:Xq22.3
pathogenic|likely pathogenic
NM_002764.4(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_002764.4(PRPS1):c.92del (p.Val31fs) 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_002764.4(PRPS1):c.177T>A (p.Gly59=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001414907]|Inborn genetic diseases [RCV002402174]|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_002764.4(PRPS1):c.705-6C>T single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000863918]|Inborn genetic diseases [RCV002374719]|not provided [RCV001696781]|not specified [RCV000433153] ChrX:107647600 [GRCh38]
ChrX:106890830 [GRCh37]
ChrX:Xq22.3
benign|likely benign
NM_002764.4(PRPS1):c.288G>A (p.Arg96=) single nucleotide variant Arts syndrome [RCV002502521]|Charcot-Marie-Tooth Neuropathy X [RCV000867248]|Inborn genetic diseases [RCV002436277]|not provided [RCV001703725] 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 Arts syndrome [RCV002489166]|Charcot-Marie-Tooth Neuropathy X [RCV002063802]|not specified [RCV000480712] ChrX:107639276..107639277 [GRCh38]
ChrX:106882506..106882507 [GRCh37]
ChrX:Xq22.3
benign|likely benign
NM_002764.4(PRPS1):c.-45AGC[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_002764.4(PRPS1):c.779G>A (p.Arg260His) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001359465]|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|uncertain significance
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_002764.4(PRPS1):c.456A>C (p.Leu152=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001396651]|Inborn genetic diseases [RCV002341482] ChrX:107642416 [GRCh38]
ChrX:106885646 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.586C>T (p.Arg196Trp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001857876]|Retinal dystrophy [RCV000590871]|not provided [RCV002466527] ChrX:107645232 [GRCh38]
ChrX:106888462 [GRCh37]
ChrX:Xq22.3
pathogenic|likely pathogenic
NM_002764.4(PRPS1):c.307-2A>G single nucleotide variant Inborn genetic diseases [RCV000623501] ChrX:107640900 [GRCh38]
ChrX:106884130 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.4(PRPS1):c.530+1G>A single nucleotide variant Inborn genetic diseases [RCV000624323] ChrX:107642491 [GRCh38]
ChrX:106885721 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.573G>A (p.Leu191=) single nucleotide variant Arts syndrome [RCV002498913]|Charcot-Marie-Tooth Neuropathy X [RCV000654856]|Inborn genetic diseases [RCV002350464]|not provided [RCV001726258]|not specified [RCV000610806] ChrX:107645219 [GRCh38]
ChrX:106888449 [GRCh37]
ChrX:Xq22.3
benign|likely benign
NM_002764.4(PRPS1):c.60T>C (p.Ala20=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV000654855]|Inborn genetic diseases [RCV002358897] 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_002764.4(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 Autism [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]|Hearing loss, 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.705-135_705-131del deletion not provided [RCV001709771] ChrX:107647468..107647472 [GRCh38]
ChrX:106890698..106890702 [GRCh37]
ChrX:Xq22.3
benign
NM_002764.4(PRPS1):c.752G>A (p.Gly251Glu) single nucleotide variant not provided [RCV003238943] ChrX:107647653 [GRCh38]
ChrX:106890883 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.864+61G>A single nucleotide variant not provided [RCV001581461] ChrX:107647826 [GRCh38]
ChrX:106891056 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.*389G>A single nucleotide variant Arts syndrome [RCV001167289]|Hearing loss, 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 Charcot-Marie-Tooth Neuropathy X [RCV001502402] 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 Charcot-Marie-Tooth Neuropathy X [RCV001493975] 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_002764.4(PRPS1):c.531-74C>T single nucleotide variant not provided [RCV000835688] ChrX:107645103 [GRCh38]
ChrX:106888333 [GRCh37]
ChrX:Xq22.3
benign
NM_002764.4(PRPS1):c.122+254C>T single nucleotide variant not provided [RCV000832736] ChrX:107629004 [GRCh38]
ChrX:106872234 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.43T>C (p.Leu15=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001485515]|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_002764.4(PRPS1):c.865-234C>T single nucleotide variant not provided [RCV000832330] ChrX:107649706 [GRCh38]
ChrX:106892936 [GRCh37]
ChrX:Xq22.3
benign
NM_002764.4(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]|Hearing loss, 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]|Hearing loss, 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.531-262C>T single nucleotide variant not provided [RCV001598481] ChrX:107644915 [GRCh38]
ChrX:106888145 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.705-11T>C single nucleotide variant Arts syndrome [RCV002495966]|Charcot-Marie-Tooth Neuropathy X [RCV002072373]|not provided [RCV001616333] ChrX:107647595 [GRCh38]
ChrX:106890825 [GRCh37]
ChrX:Xq22.3
benign|likely benign
NM_002764.4(PRPS1):c.123-36A>G single nucleotide variant not provided [RCV001587009] ChrX:107639259 [GRCh38]
ChrX:106882489 [GRCh37]
ChrX:Xq22.3
likely benign
GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1 copy number loss Xq21.32q23 deletion [RCV001579312] ChrX:91829757..113050225 [GRCh37]
ChrX:Xq21.32-23
pathogenic
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]|Hearing loss, X-linked 1 [RCV001169685]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001169687] ChrX:107650169 [GRCh38]
ChrX:106893399 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.531-21T>C single nucleotide variant not provided [RCV001563127] ChrX:107645156 [GRCh38]
ChrX:106888386 [GRCh37]
ChrX:Xq22.3
likely benign
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
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002764.4(PRPS1):c.250C>T (p.Arg84Trp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001866068]|not provided [RCV001576926] ChrX:107639422 [GRCh38]
ChrX:106882652 [GRCh37]
ChrX:Xq22.3
pathogenic|likely pathogenic|uncertain significance
NM_002764.4(PRPS1):c.864+41T>A single nucleotide variant not provided [RCV001639362] ChrX:107647806 [GRCh38]
ChrX:106891036 [GRCh37]
ChrX:Xq22.3
benign
NM_002764.4(PRPS1):c.307-31G>C single nucleotide variant not provided [RCV001638435] ChrX:107640871 [GRCh38]
ChrX:106884101 [GRCh37]
ChrX:Xq22.3
benign
NM_002764.4(PRPS1):c.*423T>A single nucleotide variant Arts syndrome [RCV001167886]|Hearing loss, X-linked 1 [RCV001167885]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001167884] ChrX:107650455 [GRCh38]
ChrX:106893685 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.531-38G>T single nucleotide variant not provided [RCV001694452] ChrX:107645139 [GRCh38]
ChrX:106888369 [GRCh37]
ChrX:Xq22.3
benign
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002764.4(PRPS1):c.287G>A (p.Arg96Gln) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002573283]|not provided [RCV001584942] ChrX:107639459 [GRCh38]
ChrX:106882689 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.864+179del deletion not provided [RCV001609417] ChrX:107647934 [GRCh38]
ChrX:106891164 [GRCh37]
ChrX:Xq22.3
benign
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]|Hearing loss, 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]|Hearing loss, 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]|Hearing loss, 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]|Hearing loss, 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 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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.611G>A (p.Arg204His) single nucleotide variant Arts syndrome [RCV002493873]|Charcot-Marie-Tooth Neuropathy X [RCV001367011] ChrX:107645257 [GRCh38]
ChrX:106888487 [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
likely benign|uncertain significance
NM_002764.4(PRPS1):c.759C>T (p.Phe253=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001421436] ChrX:107647660 [GRCh38]
ChrX:106890890 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.807A>C (p.Val269=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001440927] ChrX:107647708 [GRCh38]
ChrX:106890938 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.441A>G (p.Ala147=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001498482] ChrX:107642401 [GRCh38]
ChrX:106885631 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.348A>G (p.Leu116=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001487524] ChrX:107640943 [GRCh38]
ChrX:106884173 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.270A>C (p.Pro90=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001521086] ChrX:107639442 [GRCh38]
ChrX:106882672 [GRCh37]
ChrX:Xq22.3
benign
NM_002764.4(PRPS1):c.459G>A (p.Lys153=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001503610] ChrX:107642419 [GRCh38]
ChrX:106885649 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.864+7A>T single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001456107] ChrX:107647772 [GRCh38]
ChrX:106891002 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.123-4G>A single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001493582] ChrX:107639291 [GRCh38]
ChrX:106882521 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.867G>A (p.Val289=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001444085] ChrX:107649942 [GRCh38]
ChrX:106893172 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.454C>T (p.Leu152=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001449134] ChrX:107642414 [GRCh38]
ChrX:106885644 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.348A>C (p.Leu116=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001400742] ChrX:107640943 [GRCh38]
ChrX:106884173 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.420C>T (p.Ile140=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001447710] ChrX:107642380 [GRCh38]
ChrX:106885610 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.261A>C (p.Ala87=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001408437] ChrX:107639433 [GRCh38]
ChrX:106882663 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.315G>A (p.Ala105=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001424211] ChrX:107640910 [GRCh38]
ChrX:106884140 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.868A>G (p.Ile290Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001406555] ChrX:107649943 [GRCh38]
ChrX:106893173 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.24C>T (p.Ser8=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001500491] ChrX:107628652 [GRCh38]
ChrX:106871882 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.630T>C (p.Asp210=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001425683] ChrX:107645276 [GRCh38]
ChrX:106888506 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.447G>T (p.Pro149=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001505670] ChrX:107642407 [GRCh38]
ChrX:106885637 [GRCh37]
ChrX:Xq22.3
likely benign
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_002764.4(PRPS1):c.346C>G (p.Leu116Val) single nucleotide variant not provided [RCV001761357] ChrX:107640941 [GRCh38]
ChrX:106884171 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.641G>A (p.Arg214Gln) single nucleotide variant Arts syndrome [RCV001775331]|Charcot-Marie-Tooth Neuropathy X [RCV002541044]|not specified [RCV001822002] ChrX:107645287 [GRCh38]
ChrX:106888517 [GRCh37]
ChrX:Xq22.3
likely pathogenic|uncertain significance
NM_002764.4(PRPS1):c.224A>C (p.Asn75Thr) single nucleotide variant not provided [RCV001752585] ChrX:107639396 [GRCh38]
ChrX:106882626 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.220A>G (p.Ile74Val) single nucleotide variant not provided [RCV001765056] ChrX:107639392 [GRCh38]
ChrX:106882622 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.205G>A (p.Glu69Lys) single nucleotide variant not provided [RCV001752746] ChrX:107639377 [GRCh38]
ChrX:106882607 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xq22.3-23(chrX:104782507-112949573)x2 copy number gain not provided [RCV001795543] ChrX:104782507..112949573 [GRCh37]
ChrX:Xq22.3-23
likely pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_002764.4(PRPS1):c.719G>A (p.Gly240Asp) single nucleotide variant not provided [RCV001816551] ChrX:107647620 [GRCh38]
ChrX:106890850 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.497C>T (p.Thr166Ile) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001869593]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001809108] ChrX:107642457 [GRCh38]
ChrX:106885687 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.383A>T (p.Asp128Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001971564]|Charcot-Marie-Tooth disease X-linked recessive 5 [RCV003224602]|not provided [RCV003225212] ChrX:107640978 [GRCh38]
ChrX:106884208 [GRCh37]
ChrX:Xq22.3
likely pathogenic|uncertain significance
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067) copy number gain not specified [RCV002053170] ChrX:103158718..111556067 [GRCh37]
ChrX:Xq22.2-23
pathogenic
NM_002764.4(PRPS1):c.829C>G (p.Gln277Glu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001889969] ChrX:107647730 [GRCh38]
ChrX:106890960 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.149G>A (p.Gly50Glu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001912928] ChrX:107639321 [GRCh38]
ChrX:106882551 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.1-24(chrX:101982475-116885339) copy number gain not specified [RCV002053166] ChrX:101982475..116885339 [GRCh37]
ChrX:Xq22.1-24
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002764.4(PRPS1):c.190A>G (p.Asn64Asp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001924777] ChrX:107639362 [GRCh38]
ChrX:106882592 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.621del (p.Val208fs) deletion Charcot-Marie-Tooth Neuropathy X [RCV001941661] ChrX:107645266 [GRCh38]
ChrX:106888496 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.4(PRPS1):c.673A>G (p.Thr225Ala) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002048412] ChrX:107645319 [GRCh38]
ChrX:106888549 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.805G>T (p.Val269Leu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001921971] ChrX:107647706 [GRCh38]
ChrX:106890936 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.334G>A (p.Val112Ile) single nucleotide variant Arts syndrome [RCV002489973]|Charcot-Marie-Tooth Neuropathy X [RCV001870272] ChrX:107640929 [GRCh38]
ChrX:106884159 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.316C>A (p.Pro106Thr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001954225] ChrX:107640911 [GRCh38]
ChrX:106884141 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.769G>A (p.Ala257Thr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001931002] ChrX:107647670 [GRCh38]
ChrX:106890900 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.511G>T (p.Asp171Tyr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001994046] ChrX:107642471 [GRCh38]
ChrX:106885701 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.671A>G (p.Asp224Gly) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001902270] ChrX:107645317 [GRCh38]
ChrX:106888547 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.587G>A (p.Arg196Gln) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV001905384] ChrX:107645233 [GRCh38]
ChrX:106888463 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.143T>C (p.Val48Ala) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002034013] ChrX:107639315 [GRCh38]
ChrX:106882545 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.122+16G>A single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002126238] ChrX:107628766 [GRCh38]
ChrX:106871996 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.531-14G>A single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002192035] ChrX:107645163 [GRCh38]
ChrX:106888393 [GRCh37]
ChrX:Xq22.3
benign
NM_002764.4(PRPS1):c.865-14T>C single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002190646] ChrX:107649926 [GRCh38]
ChrX:106893156 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.79C>T (p.Leu27=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002130254] ChrX:107628707 [GRCh38]
ChrX:106871937 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.122+11A>T single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002129914] ChrX:107628761 [GRCh38]
ChrX:106871991 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.122+10A>G single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002090553] ChrX:107628760 [GRCh38]
ChrX:106871990 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.99G>A (p.Lys33=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002209651] ChrX:107628727 [GRCh38]
ChrX:106871957 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.135T>C (p.Gly45=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002212627] ChrX:107639307 [GRCh38]
ChrX:106882537 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.228C>A (p.Ala76=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002172042] ChrX:107639400 [GRCh38]
ChrX:106882630 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.771T>C (p.Ala257=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002134285] ChrX:107647672 [GRCh38]
ChrX:106890902 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.282T>C (p.Tyr94=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002173611] ChrX:107639454 [GRCh38]
ChrX:106882684 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.171G>A (p.Gln57=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002194811] ChrX:107639343 [GRCh38]
ChrX:106882573 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.945T>C (p.His315=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002152096] ChrX:107650020 [GRCh38]
ChrX:106893250 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.693T>C (p.His231=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002085833] ChrX:107645339 [GRCh38]
ChrX:106888569 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.530+18A>G single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002108088] ChrX:107642508 [GRCh38]
ChrX:106885738 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.705-16C>T single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002150580] ChrX:107647590 [GRCh38]
ChrX:106890820 [GRCh37]
ChrX:Xq22.3
benign
NM_002764.4(PRPS1):c.168T>C (p.Val56=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002079652] ChrX:107639340 [GRCh38]
ChrX:106882570 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.704+8T>A single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002166400] ChrX:107645358 [GRCh38]
ChrX:106888588 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.531-15C>T single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002132487] ChrX:107645162 [GRCh38]
ChrX:106888392 [GRCh37]
ChrX:Xq22.3
benign
NM_002764.4(PRPS1):c.858A>G (p.Lys286=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002119155] ChrX:107647759 [GRCh38]
ChrX:106890989 [GRCh37]
ChrX:Xq22.3
benign
NM_002764.4(PRPS1):c.705-4C>T single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002203341]|Inborn genetic diseases [RCV002363706] ChrX:107647602 [GRCh38]
ChrX:106890832 [GRCh37]
ChrX:Xq22.3
likely benign|uncertain significance
NM_002764.4(PRPS1):c.122+11A>G single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002159829] ChrX:107628761 [GRCh38]
ChrX:106871991 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.127G>A (p.Glu43Lys) single nucleotide variant Phosphoribosylpyrophosphate synthetase superactivity [RCV002249144] ChrX:107639299 [GRCh38]
ChrX:106882529 [GRCh37]
ChrX:Xq22.3
likely pathogenic
NM_002764.4(PRPS1):c.123-6T>C single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002136405] ChrX:107639289 [GRCh38]
ChrX:106882519 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.531-9G>C single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002164548] ChrX:107645168 [GRCh38]
ChrX:106888398 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.406-4A>G single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002135950] ChrX:107642362 [GRCh38]
ChrX:106885592 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.252G>A (p.Arg84=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002177929] ChrX:107639424 [GRCh38]
ChrX:106882654 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.531-19A>T single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002082209] ChrX:107645158 [GRCh38]
ChrX:106888388 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.807A>G (p.Val269=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002099468] ChrX:107647708 [GRCh38]
ChrX:106890938 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.306+7G>A single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002156094] ChrX:107639485 [GRCh38]
ChrX:106882715 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.433T>C (p.Leu145=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002153901] ChrX:107642393 [GRCh38]
ChrX:106885623 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.789C>T (p.Asn263=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002202259] ChrX:107647690 [GRCh38]
ChrX:106890920 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.406-15A>C single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002156783] ChrX:107642351 [GRCh38]
ChrX:106885581 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.180T>C (p.Cys60=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002183750] ChrX:107639352 [GRCh38]
ChrX:106882582 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.948C>T (p.Val316=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002124093] ChrX:107650023 [GRCh38]
ChrX:106893253 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.406-20G>C single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002136837] ChrX:107642346 [GRCh38]
ChrX:106885576 [GRCh37]
ChrX:Xq22.3
benign
NC_000023.10:g.(?_106046084)_(108868249_?)del deletion Charcot-Marie-Tooth Neuropathy X [RCV003122615] ChrX:106046084..108868249 [GRCh37]
ChrX:Xq22.3-23
pathogenic
NC_000023.10:g.(?_106456106)_(106959200_?)dup duplication Charcot-Marie-Tooth Neuropathy X [RCV003122616] ChrX:106456106..106959200 [GRCh37]
ChrX:Xq22.3
uncertain significance
NC_000023.10:g.(?_106871859)_(106872000_?)dup duplication Charcot-Marie-Tooth Neuropathy X [RCV003122617] ChrX:106871859..106872000 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.334G>C (p.Val112Leu) single nucleotide variant not provided [RCV002251828] ChrX:107640929 [GRCh38]
ChrX:106884159 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.21C>A (p.Phe7Leu) single nucleotide variant not provided [RCV003232011] ChrX:107628649 [GRCh38]
ChrX:106871879 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.367C>G (p.His123Asp) single nucleotide variant Arts syndrome [RCV002275731] ChrX:107640962 [GRCh38]
ChrX:106884192 [GRCh37]
ChrX:Xq22.3
not provided
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3 copy number gain not provided [RCV002291535] ChrX:76794355..119282836 [GRCh37]
ChrX:Xq21.1-24
pathogenic
NM_002764.4(PRPS1):c.826C>T (p.Pro276Ser) single nucleotide variant Charcot-Marie-Tooth disease X-linked recessive 5 [RCV002291147] ChrX:107647727 [GRCh38]
ChrX:106890957 [GRCh37]
ChrX:Xq22.3
likely pathogenic
NM_002764.4(PRPS1):c.160T>C (p.Tyr54His) single nucleotide variant not provided [RCV002269742] ChrX:107639332 [GRCh38]
ChrX:106882562 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.179G>A (p.Cys60Tyr) single nucleotide variant Arts syndrome [RCV003148088] ChrX:107639351 [GRCh38]
ChrX:106882581 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.292G>A (p.Asp98Asn) single nucleotide variant not provided [RCV003130343] ChrX:107639464 [GRCh38]
ChrX:106882694 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.173G>A (p.Ser58Asn) single nucleotide variant not provided [RCV002469557] ChrX:107639345 [GRCh38]
ChrX:106882575 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xq22.3(chrX:105730612-107162289)x3 copy number gain not provided [RCV002473830] ChrX:105730612..107162289 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1 copy number loss not provided [RCV002474518] ChrX:93805850..118913329 [GRCh37]
ChrX:Xq21.33-24
pathogenic
NM_002764.4(PRPS1):c.733T>C (p.Tyr245His) single nucleotide variant Arts syndrome [RCV002470496] ChrX:107647634 [GRCh38]
ChrX:106890864 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.925G>A (p.Val309Ile) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002304981] ChrX:107650000 [GRCh38]
ChrX:106893230 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.244G>C (p.Ala82Pro) single nucleotide variant Hearing loss, X-linked 1 [RCV002305694] ChrX:107639416 [GRCh38]
ChrX:106882646 [GRCh37]
ChrX:Xq22.3
not provided
NM_002764.4(PRPS1):c.755TCT[1] (p.Phe253del) microsatellite Charcot-Marie-Tooth Neuropathy X [RCV002837858] ChrX:107647656..107647658 [GRCh38]
ChrX:106890886..106890888 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.306+17A>T single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002908092] ChrX:107639495 [GRCh38]
ChrX:106882725 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.865-20T>G single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002880332] ChrX:107649920 [GRCh38]
ChrX:106893150 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.758T>A (p.Phe253Tyr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV003032742] ChrX:107647659 [GRCh38]
ChrX:106890889 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.624G>A (p.Val208=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002616858] ChrX:107645270 [GRCh38]
ChrX:106888500 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.796T>C (p.Phe266Leu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV003055501] ChrX:107647697 [GRCh38]
ChrX:106890927 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.219G>A (p.Met73Ile) single nucleotide variant Inborn genetic diseases [RCV002708011] ChrX:107639391 [GRCh38]
ChrX:106882621 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.96T>C (p.Thr32=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002572196] ChrX:107628724 [GRCh38]
ChrX:106871954 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.435G>A (p.Leu145=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002889692] ChrX:107642395 [GRCh38]
ChrX:106885625 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.570del (p.Ala190_Leu191insTer) deletion Charcot-Marie-Tooth Neuropathy X [RCV003053906] ChrX:107645215 [GRCh38]
ChrX:106888445 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.4(PRPS1):c.270A>T (p.Pro90=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002797218] ChrX:107639442 [GRCh38]
ChrX:106882672 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.936A>G (p.Leu312=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002690951] ChrX:107650011 [GRCh38]
ChrX:106893241 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.111C>T (p.Asn37=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002637348] ChrX:107628739 [GRCh38]
ChrX:106871969 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.122+18A>G single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002846907] ChrX:107628768 [GRCh38]
ChrX:106871998 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.183C>A (p.Gly61=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV003035785] ChrX:107639355 [GRCh38]
ChrX:106882585 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.286C>T (p.Arg96Trp) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV003053901] ChrX:107639458 [GRCh38]
ChrX:106882688 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.727A>C (p.Arg243=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002667643] ChrX:107647628 [GRCh38]
ChrX:106890858 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.785A>G (p.Asn262Ser) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV003008148] ChrX:107647686 [GRCh38]
ChrX:106890916 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.249C>T (p.Ser83=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002710087] ChrX:107639421 [GRCh38]
ChrX:106882651 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.462G>A (p.Trp154Ter) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002828153] ChrX:107642422 [GRCh38]
ChrX:106885652 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_002764.4(PRPS1):c.827C>A (p.Pro276His) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV003022906] ChrX:107647728 [GRCh38]
ChrX:106890958 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.307-8C>T single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002800860] ChrX:107640894 [GRCh38]
ChrX:106884124 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.191A>T (p.Asn64Ile) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002853059] ChrX:107639363 [GRCh38]
ChrX:106882593 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.480T>C (p.Ser160=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002928961] ChrX:107642440 [GRCh38]
ChrX:106885670 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.721G>A (p.Ala241Thr) single nucleotide variant Inborn genetic diseases [RCV002893223] ChrX:107647622 [GRCh38]
ChrX:106890852 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.450T>C (p.Ala150=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002875561] ChrX:107642410 [GRCh38]
ChrX:106885640 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.940A>T (p.Ser314Cys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV003030530] ChrX:107650015 [GRCh38]
ChrX:106893245 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.514G>A (p.Ala172Thr) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002833289] ChrX:107642474 [GRCh38]
ChrX:106885704 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.531-15C>A single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV003088539] ChrX:107645162 [GRCh38]
ChrX:106888392 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.675T>C (p.Thr225=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002806812] ChrX:107645321 [GRCh38]
ChrX:106888551 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.405+14C>T single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002579151] ChrX:107641014 [GRCh38]
ChrX:106884244 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.492C>T (p.Asn164=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV003045511] ChrX:107642452 [GRCh38]
ChrX:106885682 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.405+13G>A single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV003063065] ChrX:107641013 [GRCh38]
ChrX:106884243 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.639T>C (p.Asp213=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002601055] ChrX:107645285 [GRCh38]
ChrX:106888515 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.269C>T (p.Pro90Leu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002963046] ChrX:107639441 [GRCh38]
ChrX:106882671 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.366T>C (p.Asp122=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV003026916] ChrX:107640961 [GRCh38]
ChrX:106884191 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.908C>T (p.Thr303Ile) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002581442] ChrX:107649983 [GRCh38]
ChrX:106893213 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.406-17C>A single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002834010] ChrX:107642349 [GRCh38]
ChrX:106885579 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.89T>A (p.Val30Glu) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002834037] ChrX:107628717 [GRCh38]
ChrX:106871947 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.555G>A (p.Leu185=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002604699] ChrX:107645201 [GRCh38]
ChrX:106888431 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.471G>A (p.Glu157=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002680920] ChrX:107642431 [GRCh38]
ChrX:106885661 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.63C>T (p.Asp21=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002943172] ChrX:107628691 [GRCh38]
ChrX:106871921 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.307-6A>G single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV003051885] ChrX:107640896 [GRCh38]
ChrX:106884126 [GRCh37]
ChrX:Xq22.3
likely benign
NM_002764.4(PRPS1):c.499A>G (p.Ile167Val) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV002606374] ChrX:107642459 [GRCh38]
ChrX:106885689 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.118A>G (p.Thr40Ala) single nucleotide variant not provided [RCV003135148] ChrX:107628746 [GRCh38]
ChrX:106871976 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.755T>A (p.Ile252Asn) single nucleotide variant Phosphoribosylpyrophosphate synthetase superactivity [RCV003225008] ChrX:107647656 [GRCh38]
ChrX:106890886 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.296A>G (p.Lys99Arg) single nucleotide variant not provided [RCV003325705] ChrX:107639468 [GRCh38]
ChrX:106882698 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.74T>C (p.Leu25Pro) single nucleotide variant not provided [RCV003457186] ChrX:107628702 [GRCh38]
ChrX:106871932 [GRCh37]
ChrX:Xq22.3
likely pathogenic
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1 copy number loss not provided [RCV003483927] ChrX:91274467..126799984 [GRCh37]
ChrX:Xq21.31-25
pathogenic
GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3 copy number gain not provided [RCV003485308] ChrX:96349060..106950847 [GRCh37]
ChrX:Xq21.33-22.3
pathogenic
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3 copy number gain not provided [RCV003485304] ChrX:77212972..118576590 [GRCh37]
ChrX:Xq21.1-24
pathogenic
NM_002764.4(PRPS1):c.*685C>T single nucleotide variant not provided [RCV003457614] ChrX:107650717 [GRCh38]
ChrX:106893947 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.778C>T (p.Arg260Cys) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV003824918] ChrX:107647679 [GRCh38]
ChrX:106890909 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_002764.4(PRPS1):c.54A>G (p.Lys18=) single nucleotide variant Charcot-Marie-Tooth Neuropathy X [RCV003878992] ChrX:107628682 [GRCh38]
ChrX:106871912 [GRCh37]
ChrX:Xq22.3
likely benign
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.

Markers in Region
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


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
  CP068255 (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

RefSeq Acc Id: ENST00000372418   ⟹   ENSP00000361495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,628,490 - 107,650,469 (+)Ensembl
RefSeq Acc Id: ENST00000372419   ⟹   ENSP00000361496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,628,530 - 107,641,124 (+)Ensembl
RefSeq Acc Id: ENST00000372428   ⟹   ENSP00000361505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,647,606 - 107,651,026 (+)Ensembl
RefSeq Acc Id: ENST00000372435   ⟹   ENSP00000361512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,628,510 - 107,651,026 (+)Ensembl
RefSeq Acc Id: ENST00000643795   ⟹   ENSP00000496286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,628,428 - 107,651,025 (+)Ensembl
RefSeq Acc Id: ENST00000644642   ⟹   ENSP00000495493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,628,510 - 107,650,879 (+)Ensembl
RefSeq Acc Id: ENST00000645638   ⟹   ENSP00000496554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,628,485 - 107,640,911 (+)Ensembl
RefSeq Acc Id: ENST00000645903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,628,535 - 107,642,538 (+)Ensembl
RefSeq Acc Id: ENST00000646815   ⟹   ENSP00000495801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,628,510 - 107,630,219 (+)Ensembl
RefSeq Acc Id: ENST00000674525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,628,544 - 107,645,569 (+)Ensembl
RefSeq Acc Id: ENST00000674826   ⟹   ENSP00000502278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,628,516 - 107,650,142 (+)Ensembl
RefSeq Acc Id: ENST00000674843   ⟹   ENSP00000502260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,628,629 - 107,639,478 (+)Ensembl
RefSeq Acc Id: ENST00000675046   ⟹   ENSP00000501767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,639,295 - 107,647,765 (+)Ensembl
RefSeq Acc Id: ENST00000675082   ⟹   ENSP00000502347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,642,366 - 107,647,765 (+)Ensembl
RefSeq Acc Id: ENST00000675124   ⟹   ENSP00000502439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,642,366 - 107,647,765 (+)Ensembl
RefSeq Acc Id: ENST00000675263   ⟹   ENSP00000502081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,649,940 - 107,651,993 (+)Ensembl
RefSeq Acc Id: ENST00000675304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,628,428 - 107,639,478 (+)Ensembl
RefSeq Acc Id: ENST00000675353   ⟹   ENSP00000502149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,645,177 - 107,650,032 (+)Ensembl
RefSeq Acc Id: ENST00000675630   ⟹   ENSP00000502050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,642,366 - 107,647,765 (+)Ensembl
RefSeq Acc Id: ENST00000675720   ⟹   ENSP00000501721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,639,295 - 107,645,350 (+)Ensembl
RefSeq Acc Id: ENST00000675875   ⟹   ENSP00000502070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,645,177 - 107,651,025 (+)Ensembl
RefSeq Acc Id: ENST00000675921   ⟹   ENSP00000502707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,642,366 - 107,645,350 (+)Ensembl
RefSeq Acc Id: ENST00000676092   ⟹   ENSP00000502780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,628,611 - 107,650,050 (+)Ensembl
RefSeq Acc Id: ENST00000676322   ⟹   ENSP00000501977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX107,649,940 - 107,651,026 (+)Ensembl
RefSeq Acc Id: ENST00000676365   ⟹   ENSP00000501550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.0X106,065,274 - 106,087,791 (+)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
T2T-CHM13v2.0X106,065,274 - 106,087,791 (+)NCBI
Sequence:
RefSeq Acc Id: NP_002755   ⟸   NM_002764
- Peptide Label: isoform 1
- UniProtKB: D3DUX6 (UniProtKB/Swiss-Prot),   B4DNL6 (UniProtKB/Swiss-Prot),   B2R6T7 (UniProtKB/Swiss-Prot),   B1ALA8 (UniProtKB/Swiss-Prot),   P09329 (UniProtKB/Swiss-Prot),   P60891 (UniProtKB/Swiss-Prot),   Q53FW2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001191331   ⟸   NM_001204402
- Peptide Label: isoform 2
- UniProtKB: 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 Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P60891-F1-model_v2 AlphaFold P60891 1-318 view protein structure

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

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 Transcript ENST00000372418.4 UniProtKB/TrEMBL
  ENST00000372419.3 UniProtKB/TrEMBL
  ENST00000372428.9 UniProtKB/TrEMBL
  ENST00000372435 ENTREZGENE
  ENST00000372435.10 UniProtKB/Swiss-Prot
  ENST00000643795.2 UniProtKB/TrEMBL
  ENST00000644642.1 UniProtKB/TrEMBL
  ENST00000645638.1 UniProtKB/TrEMBL
  ENST00000646815.1 UniProtKB/TrEMBL
  ENST00000674826.1 UniProtKB/TrEMBL
  ENST00000674843.1 UniProtKB/TrEMBL
  ENST00000675046.1 UniProtKB/TrEMBL
  ENST00000675082.1 UniProtKB/TrEMBL
  ENST00000675124.1 UniProtKB/TrEMBL
  ENST00000675263.1 UniProtKB/TrEMBL
  ENST00000675353.1 UniProtKB/TrEMBL
  ENST00000675630.1 UniProtKB/TrEMBL
  ENST00000675720.1 UniProtKB/TrEMBL
  ENST00000675875.1 UniProtKB/TrEMBL
  ENST00000675921.1 UniProtKB/TrEMBL
  ENST00000676092.1 UniProtKB/TrEMBL
  ENST00000676322.1 UniProtKB/TrEMBL
  ENST00000676365.1 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, UniProtKB/TrEMBL
KEGG Report hsa:5631 UniProtKB/Swiss-Prot
NCBI Gene 5631 ENTREZGENE
OMIM 311850 OMIM
PANTHER PTHR10210 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RIBOSE-PHOSPHATE DIPHOSPHOKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RIBOSE-PHOSPHATE PYROPHOSPHOKINASE 1 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
SMART Pribosyltran_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53271 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
  B1ALA8 ENTREZGENE
  B1ALA9_HUMAN UniProtKB/TrEMBL
  B2R6T7 ENTREZGENE
  B4DNL6 ENTREZGENE
  B7ZB02 ENTREZGENE, UniProtKB/TrEMBL
  D3DUX6 ENTREZGENE
  P09329 ENTREZGENE
  P60891 ENTREZGENE, UniProtKB/Swiss-Prot
  Q15244_HUMAN UniProtKB/TrEMBL
  Q53FW2 ENTREZGENE, 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 from RGD:1350243 737654 PROVISIONAL