PDK4 pyruvate dehydrogenase kinase 4

Information
Symbol
PDK4
Type
protein-coding
Description
pyruvate dehydrogenase kinase 4
Entrez Gene ID
5166
Genome
hg19
Position
chr7:95,212,811-95,225,828
Genome
hg38
Position
chr7:95,583,499-95,596,516
MIM
602527 OMIM
HGNC
HGNC:8812 HGNC
Ensembl
ENSG00000004799 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 40
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
[No Data.]
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
MIM 602527 OMIM
HGNC HGNC:8812 HGNC
Ensembl ENSG00000004799 Ensembl
AllianceGenome HGNC:8812
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000005178.6 hg38 chr7 95,583,499 95,596,516 13,018
ENST00000005178.6 hg19 chr7 95,212,811 95,225,828 13,018
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