PFKM phosphofructokinase, muscle

Information
Symbol
PFKM
Type
protein-coding
Description
phosphofructokinase, muscle
Entrez Gene ID
5213
Genome
hg19
Position
chr12:48,499,901-48,539,862
Genome
hg38
Position
chr12:48,106,118-48,146,079
MIM
610681 OMIM
HGNC
HGNC:8877 HGNC
Ensembl
ENSG00000152556 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 3 92
Likely pathogenic 0 152
Benign 0 136
Likely benign 0 1,112
Conflicting classifications of pathogenicity 0 28
Uncertain significance 0 360
Ranking
ClinVar
0
0
230
1,550
20
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 ATP-PFK
SYNONYM GSD7
SYNONYM PFK-1
SYNONYM PFK-A
SYNONYM PFK1
SYNONYM PFKA
SYNONYM PFKX
SYNONYM PPP1R122
MIM 610681 OMIM
HGNC HGNC:8877 HGNC
Ensembl ENSG00000152556 Ensembl
AllianceGenome HGNC:8877
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000312352.11 hg38 chr12 48,122,647 48,146,404 23,758
ENST00000551339.6 hg38 chr12 48,119,327 48,146,088 26,762
ENST00000340802.12 hg38 chr12 48,105,923 48,146,404 40,482
ENST00000550345.6 hg38 chr12 48,105,139 48,146,079 40,941
ENST00000359794.11 hg38 chr12 48,119,364 48,146,404 27,041
ENST00000550924.6 hg38 chr12 48,105,621 48,145,911 40,291
ENST00000642730.1 hg38 chr12 48,106,118 48,146,079 39,962
ENST00000551804.5 hg38 chr12 48,119,787 48,146,104 26,318
ENST00000629846.2 hg38 chr12 48,119,343 48,132,090 12,748
ENST00000550257.7 hg38 chr12 48,105,923 48,146,404 40,482
ENST00000549941.7 hg38 chr12 48,105,911 48,145,917 40,007
ENST00000547587.5 hg38 chr12 48,122,647 48,146,104 23,458
ENST00000312352.11 hg19 chr12 48,516,430 48,540,187 23,758
ENST00000359794.11 hg19 chr12 48,513,147 48,540,187 27,041
ENST00000547587.5 hg19 chr12 48,516,430 48,539,887 23,458
ENST00000550345.6 hg19 chr12 48,498,922 48,539,862 40,941
ENST00000550924.6 hg19 chr12 48,499,404 48,539,694 40,291
ENST00000549941.7 hg19 chr12 48,499,694 48,539,700 40,007
ENST00000550257.7 hg19 chr12 48,499,706 48,540,187 40,482
ENST00000340802.12 hg19 chr12 48,499,706 48,540,187 40,482
ENST00000551339.6 hg19 chr12 48,513,110 48,539,871 26,762
ENST00000551804.5 hg19 chr12 48,513,570 48,539,887 26,318
ENST00000629846.2 hg19 chr12 48,513,126 48,525,873 12,748
ENST00000642730.1 hg19 chr12 48,499,901 48,539,862 39,962
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