GPI glucose-6-phosphate isomerase

Information
Symbol
GPI
Type
protein-coding
Description
glucose-6-phosphate isomerase
Entrez Gene ID
2821
Genome
hg19
Position
chr19:34,855,645-34,893,318
Genome
hg38
Position
chr19:34,364,740-34,402,413
MIM
172400 OMIM
HGNC
HGNC:4458 HGNC
Ensembl
ENSG00000105220 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 10 36
Likely pathogenic 0 18
Benign 8 38
Likely benign 0 70
Conflicting classifications of pathogenicity 0 14
Uncertain significance 0 136
Ranking
ClinVar
0
0
60
218
10
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 AMF
SYNONYM GNPI
SYNONYM NLK
SYNONYM PGI
SYNONYM PHI
SYNONYM SA-36
SYNONYM SA36
MIM 172400 OMIM
HGNC HGNC:4458 HGNC
Ensembl ENSG00000105220 Ensembl
AllianceGenome HGNC:4458
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000588991.7 hg38 chr19 34,364,793 34,400,245 35,453
ENST00000415930.8 hg38 chr19 34,364,740 34,402,413 37,674
ENST00000356487.11 hg38 chr19 34,365,196 34,402,413 37,218
ENST00000356487.11 hg19 chr19 34,856,101 34,893,318 37,218
ENST00000415930.8 hg19 chr19 34,855,645 34,893,318 37,674
ENST00000588991.7 hg19 chr19 34,855,698 34,891,150 35,453
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