G6PC3 glucose-6-phosphatase catalytic subunit 3

Information
Symbol
G6PC3
Type
protein-coding
Description
glucose-6-phosphatase catalytic subunit 3
Entrez Gene ID
92579
Genome
hg19
Position
chr17:42,148,103-42,153,712
Genome
hg38
Position
chr17:44,070,735-44,076,344
MIM
611045 OMIM
HGNC
HGNC:24861 HGNC
Ensembl
ENSG00000141349 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 74
Likely pathogenic 0 18
Benign 0 26
Likely benign 0 354
Conflicting classifications of pathogenicity 0 24
Uncertain significance 0 280
Ranking
ClinVar
0
0
68
666
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
[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 SCN4
SYNONYM UGRP
MIM 611045 OMIM
HGNC HGNC:24861 HGNC
Ensembl ENSG00000141349 Ensembl
AllianceGenome HGNC:24861
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000590253.3 hg38 chr17 44,070,730 44,076,344 5,615
ENST00000696383.1 hg38 chr17 44,070,620 44,076,319 5,700
ENST00000696386.1 hg38 chr17 44,070,813 44,076,344 5,532
ENST00000696393.1 hg38 chr17 44,070,957 44,078,104 7,148
ENST00000696390.1 hg38 chr17 44,070,857 44,076,343 5,487
ENST00000269097.9 hg38 chr17 44,070,735 44,076,344 5,610
ENST00000696383.1 hg19 chr17 42,147,988 42,153,687 5,700
ENST00000269097.9 hg19 chr17 42,148,103 42,153,712 5,610
ENST00000590253.3 hg19 chr17 42,148,098 42,153,712 5,615
ENST00000696386.1 hg19 chr17 42,148,181 42,153,712 5,532
ENST00000696390.1 hg19 chr17 42,148,225 42,153,711 5,487
ENST00000696393.1 hg19 chr17 42,148,325 42,155,472 7,148
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