PGLS 6-phosphogluconolactonase

Information
Symbol
PGLS
Type
protein-coding
Description
6-phosphogluconolactonase
Entrez Gene ID
25796
Genome
hg19
Position
chr19:17,622,458-17,632,097
Genome
hg38
Position
chr19:17,511,649-17,521,288
MIM
604951 OMIM
HGNC
HGNC:8903 HGNC
Ensembl
ENSG00000130313 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 56
Ranking
ClinVar
0
0
0
58
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
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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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 6PGL
SYNONYM HEL-S-304
MIM 604951 OMIM
HGNC HGNC:8903 HGNC
Ensembl ENSG00000130313 Ensembl
AllianceGenome HGNC:8903
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000252603.7 hg38 chr19 17,511,649 17,521,288 9,640
ENST00000252603.7 hg19 chr19 17,622,458 17,632,097 9,640
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