PDK3 pyruvate dehydrogenase kinase 3

Information
Symbol
PDK3
Type
protein-coding
Description
pyruvate dehydrogenase kinase 3
Entrez Gene ID
5165
Genome
hg19
Position
chrX:24,483,403-24,568,583
Genome
hg38
Position
chrX:24,465,286-24,550,466
MIM
300906 OMIM
HGNC
HGNC:8811 HGNC
Ensembl
ENSG00000067992 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 76
Likely benign 0 126
Conflicting classifications of pathogenicity 0 14
not provided 6 0
Uncertain significance 0 170
Ranking
ClinVar
0
0
36
328
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 :
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 CMTX6
SYNONYM GS1-358P8.4
MIM 300906 OMIM
HGNC HGNC:8811 HGNC
Ensembl ENSG00000067992 Ensembl
AllianceGenome HGNC:8811
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000568479.2 hg38 chrX 24,465,286 24,550,466 85,181
ENST00000379162.9 hg38 chrX 24,465,286 24,534,422 69,137
ENST00000379162.9 hg19 chrX 24,483,403 24,552,539 69,137
ENST00000568479.2 hg19 chrX 24,483,403 24,568,583 85,181
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