G6PD glucose-6-phosphate dehydrogenase

Information
Symbol
G6PD
Type
protein-coding
Description
glucose-6-phosphate dehydrogenase
Entrez Gene ID
2539
Genome
hg19
Position
chrX:153,759,613-153,775,536
Genome
hg38
Position
chrX:154,531,398-154,547,321
MIM
305900 OMIM
HGNC
HGNC:4057 HGNC
Ensembl
ENSG00000160211 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 5 200
Likely pathogenic 0 292
Benign 0 61
Likely benign 0 508
Conflicting classifications of pathogenicity 0 113
no classification for the single variant 0 16
not provided 7 0
Uncertain significance 0 251
Ranking
ClinVar
0
0
217
1,003
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
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 G6PD1
MIM 305900 OMIM
HGNC HGNC:4057 HGNC
Ensembl ENSG00000160211 Ensembl
AllianceGenome HGNC:4057
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000439227.6 hg38 chrX 154,531,390 154,546,955 15,566
ENST00000696421.1 hg38 chrX 154,517,830 154,546,846 29,017
ENST00000696420.1 hg38 chrX 154,517,825 154,546,846 29,022
ENST00000696429.1 hg38 chrX 154,531,398 154,547,226 15,829
ENST00000696430.1 hg38 chrX 154,531,398 154,547,321 15,924
ENST00000369620.6 hg38 chrX 154,532,000 154,547,572 15,573
ENST00000393564.7 hg38 chrX 154,531,390 154,547,572 16,183
ENST00000393562.10 hg38 chrX 154,531,391 154,546,846 15,456
ENST00000696420.1 hg19 chrX 153,746,149 153,775,061 28,913
ENST00000696421.1 hg19 chrX 153,746,154 153,775,061 28,908
ENST00000369620.6 hg19 chrX 153,760,215 153,775,787 15,573
ENST00000393562.10 hg19 chrX 153,759,606 153,775,061 15,456
ENST00000393564.7 hg19 chrX 153,759,605 153,775,787 16,183
ENST00000439227.6 hg19 chrX 153,759,605 153,775,170 15,566
ENST00000696429.1 hg19 chrX 153,759,613 153,775,441 15,829
ENST00000696430.1 hg19 chrX 153,759,613 153,775,536 15,924
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