KHK ketohexokinase

Information
Symbol
KHK
Type
protein-coding
Description
ketohexokinase
Entrez Gene ID
3795
Genome
hg19
Position
chr2:27,309,640-27,323,630
Genome
hg38
Position
chr2:27,086,772-27,100,762
MIM
614058 OMIM
HGNC
HGNC:6315 HGNC
Ensembl
ENSG00000138030 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Benign 0 42
Likely benign 0 16
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 120
Ranking
ClinVar
0
0
12
166
4
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 :
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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 FRUCTU
MIM 614058 OMIM
HGNC HGNC:6315 HGNC
Ensembl ENSG00000138030 Ensembl
AllianceGenome HGNC:6315
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000429697.2 hg38 chr2 27,086,794 27,099,969 13,176
ENST00000260599.11 hg38 chr2 27,086,772 27,100,762 13,991
ENST00000260598.10 hg38 chr2 27,086,772 27,100,762 13,991
ENST00000260598.10 hg19 chr2 27,309,640 27,323,630 13,991
ENST00000260599.11 hg19 chr2 27,309,640 27,323,630 13,991
ENST00000429697.2 hg19 chr2 27,309,662 27,322,837 13,176
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