PGK1 phosphoglycerate kinase 1

Information
Symbol
PGK1
Type
protein-coding
Description
phosphoglycerate kinase 1
Entrez Gene ID
5230
Genome
hg19
Position
chrX:77,359,745-77,384,792
Genome
hg38
Position
chrX:78,104,248-78,129,295
MIM
311800 OMIM
HGNC
HGNC:8896 HGNC
Ensembl
ENSG00000102144 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 52 266
Likely pathogenic 0 218
Benign 0 334
Likely benign 0 1,738
Conflicting classifications of pathogenicity 0 298
not provided 6 0
other 0 2
Uncertain significance 0 1,506
Ranking
ClinVar
0
0
405
3,195
384
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 HEL-S-68p
SYNONYM MIG10
SYNONYM PGKA
MIM 311800 OMIM
HGNC HGNC:8896 HGNC
Ensembl ENSG00000102144 Ensembl
AllianceGenome HGNC:8896
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000373316.5 hg38 chrX 78,104,248 78,129,295 25,048
ENST00000644362.1 hg38 chrX 77,910,739 78,126,949 216,211
ENST00000644362.1 hg19 chrX 77,166,236 77,382,446 216,211
ENST00000373316.5 hg19 chrX 77,359,745 77,384,792 25,048
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