PRPS2 phosphoribosyl pyrophosphate synthetase 2

Information
Symbol
PRPS2
Type
protein-coding
Description
phosphoribosyl pyrophosphate synthetase 2
Entrez Gene ID
5634
Genome
hg19
Position
chrX:12,809,525-12,841,205
Genome
hg38
Position
chrX:12,791,406-12,823,086
MIM
311860 OMIM
HGNC
HGNC:9465 HGNC
Ensembl
ENSG00000101911 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
not provided 7 0
Uncertain significance 0 8
Ranking
ClinVar
0
0
0
10
0
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 PRSII
MIM 311860 OMIM
HGNC HGNC:9465 HGNC
Ensembl ENSG00000101911 Ensembl
AllianceGenome HGNC:9465
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000489404.5 hg38 chrX 12,791,488 12,810,369 18,882
ENST00000380668.10 hg38 chrX 12,791,412 12,824,222 32,811
ENST00000398491.6 hg38 chrX 12,791,406 12,823,086 31,681
ENST00000398491.6 hg19 chrX 12,809,525 12,841,205 31,681
ENST00000380668.10 hg19 chrX 12,809,531 12,842,341 32,811
ENST00000489404.5 hg19 chrX 12,809,607 12,828,488 18,882
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