PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1

Information
Symbol
PFKFB1
Type
protein-coding
Description
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
Entrez Gene ID
5207
Genome
hg19
Position
chrX:54,959,394-55,020,621
Genome
hg38
Position
chrX:54,932,961-54,994,188
MIM
311790 OMIM
HGNC
HGNC:8872 HGNC
Ensembl
ENSG00000158571 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 10
Conflicting classifications of pathogenicity 0 2
not provided 6 0
Uncertain significance 0 34
Ranking
ClinVar
0
0
0
42
2
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 :
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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 F6PK
SYNONYM HL2K
SYNONYM PFRX
MIM 311790 OMIM
HGNC HGNC:8872 HGNC
Ensembl ENSG00000158571 Ensembl
AllianceGenome HGNC:8872
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000374992.6 hg38 chrX 54,933,134 54,994,078 60,945
ENST00000614686.1 hg38 chrX 54,933,387 54,994,022 60,636
ENST00000375006.8 hg38 chrX 54,932,961 54,994,188 61,228
ENST00000545676.5 hg38 chrX 54,933,134 54,998,534 65,401
ENST00000375006.8 hg19 chrX 54,959,394 55,020,621 61,228
ENST00000374992.6 hg19 chrX 54,959,567 55,020,511 60,945
ENST00000545676.5 hg19 chrX 54,959,567 55,024,967 65,401
ENST00000614686.1 hg19 chrX 54,959,820 55,020,455 60,636
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