RPIA ribose 5-phosphate isomerase A

Information
Symbol
RPIA
Type
protein-coding
Description
ribose 5-phosphate isomerase A
Entrez Gene ID
22934
Genome
hg19
Position
chr2:88,991,191-89,050,446
Genome
hg38
Position
chr2:88,691,673-88,750,929
MIM
180430 OMIM
HGNC
HGNC:10297 HGNC
Ensembl
ENSG00000153574 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Likely pathogenic 0 6
Benign 0 18
Likely benign 0 64
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 108
Ranking
ClinVar
0
0
18
184
6
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 RPI
SYNONYM RPIAD
MIM 180430 OMIM
HGNC HGNC:10297 HGNC
Ensembl ENSG00000153574 Ensembl
AllianceGenome HGNC:10297
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000283646.5 hg38 chr2 88,691,673 88,750,929 59,257
ENST00000283646.5 hg19 chr2 88,991,191 89,050,446 59,256
Genome browser