PRPS1 phosphoribosyl pyrophosphate synthetase 1

Information
Symbol
PRPS1
Type
protein-coding
Description
phosphoribosyl pyrophosphate synthetase 1
Entrez Gene ID
5631
Genome
hg19
Position
chrX:106,871,740-106,894,256
Genome
hg38
Position
chrX:107,628,510-107,651,026
MIM
311850 OMIM
HGNC
HGNC:9462 HGNC
Ensembl
ENSG00000147224 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 10 48
Likely pathogenic 0 36
Benign 0 66
Likely benign 0 292
Conflicting classifications of pathogenicity 0 4
not provided 6 4
Uncertain significance 0 168
Ranking
ClinVar
0
0
64
482
34
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM ARTS
SYNONYM CMTX5
SYNONYM DFN2
SYNONYM DFNX1
SYNONYM PPRibP
SYNONYM PRS-I
SYNONYM PRSI
MIM 311850 OMIM
HGNC HGNC:9462 HGNC
Ensembl ENSG00000147224 Ensembl
AllianceGenome HGNC:9462
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000676092.1 hg38 chrX 107,628,611 107,650,050 21,440
ENST00000372435.10 hg38 chrX 107,628,510 107,651,026 22,517
ENST00000643795.2 hg38 chrX 107,628,428 107,651,025 22,598
ENST00000372418.4 hg38 chrX 107,628,490 107,650,469 21,980
ENST00000372419.3 hg38 chrX 107,628,530 107,641,124 12,595
ENST00000646815.1 hg38 chrX 107,628,510 107,630,219 1,710
ENST00000643795.2 hg19 chrX 106,871,658 106,894,255 22,598
ENST00000372418.4 hg19 chrX 106,871,720 106,893,699 21,980
ENST00000646815.1 hg19 chrX 106,871,740 106,873,449 1,710
ENST00000372435.10 hg19 chrX 106,871,740 106,894,256 22,517
ENST00000372419.3 hg19 chrX 106,871,760 106,884,354 12,595
ENST00000676092.1 hg19 chrX 106,871,841 106,893,280 21,440
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