PDHX pyruvate dehydrogenase complex component X

Information
Symbol
PDHX
Type
protein-coding
Description
pyruvate dehydrogenase complex component X
Entrez Gene ID
8050
Genome
hg19
Position
chr11:34,938,165-35,017,675
Genome
hg38
Position
chr11:34,916,618-34,996,128
MIM
608769 OMIM
HGNC
HGNC:21350 HGNC
Ensembl
ENSG00000110435 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 28
Likely pathogenic 0 30
Benign 0 142
Likely benign 0 162
Conflicting classifications of pathogenicity 0 34
not provided 1 2
Uncertain significance 0 322
Ranking
ClinVar
0
0
168
476
14
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 DLDBP
SYNONYM E3BP
SYNONYM OPDX
SYNONYM PDHXD
SYNONYM PDX1
SYNONYM proX
MIM 608769 OMIM
HGNC HGNC:21350 HGNC
Ensembl ENSG00000110435 Ensembl
AllianceGenome HGNC:21350
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000227868.9 hg38 chr11 34,916,618 34,996,128 79,511
ENST00000448838.8 hg38 chr11 34,916,130 34,996,128 79,999
ENST00000430469.6 hg38 chr11 34,916,632 34,995,275 78,644
ENST00000448838.8 hg19 chr11 34,937,677 35,017,675 79,999
ENST00000227868.9 hg19 chr11 34,938,165 35,017,675 79,511
ENST00000430469.6 hg19 chr11 34,938,179 35,016,822 78,644
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