G6PC1 glucose-6-phosphatase catalytic subunit 1

Information
Symbol
G6PC1
Type
protein-coding
Description
glucose-6-phosphatase catalytic subunit 1
Entrez Gene ID
2538
Genome
hg19
Position
chr17:41,052,816-41,066,455
Genome
hg38
Position
chr17:42,900,799-42,914,438
MIM
613742 OMIM
HGNC
HGNC:4056 HGNC
Ensembl
ENSG00000131482 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 18 190
Likely pathogenic 0 144
Benign 0 62
Likely benign 0 400
Conflicting classifications of pathogenicity 0 60
not provided 0 2
Uncertain significance 0 298
Ranking
ClinVar
0
0
182
828
14
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 G6PC
SYNONYM G6PT
SYNONYM G6Pase
SYNONYM GSD1
SYNONYM GSD1a
MIM 613742 OMIM
HGNC HGNC:4056 HGNC
Ensembl ENSG00000131482 Ensembl
AllianceGenome HGNC:4056
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000585489.1 hg38 chr17 42,900,800 42,911,488 10,689
ENST00000592383.5 hg38 chr17 42,900,797 42,911,336 10,540
ENST00000253801.7 hg38 chr17 42,900,799 42,914,438 13,640
ENST00000592383.5 hg19 chr17 41,052,814 41,063,353 10,540
ENST00000253801.7 hg19 chr17 41,052,816 41,066,455 13,640
ENST00000585489.1 hg19 chr17 41,052,817 41,063,505 10,689
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