PDHA2 pyruvate dehydrogenase E1 subunit alpha 2

Information
Symbol
PDHA2
Type
protein-coding
Description
pyruvate dehydrogenase E1 subunit alpha 2
Entrez Gene ID
5161
Genome
hg19
Position
chr4:96,761,244-96,762,615
Genome
hg38
Position
chr4:95,840,093-95,841,464
MIM
179061 OMIM
HGNC
HGNC:8807 HGNC
Ensembl
ENSG00000163114 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 4
Uncertain significance 0 38
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 :
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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 PDHAL
SYNONYM SPGF70
MIM 179061 OMIM
HGNC HGNC:8807 HGNC
Ensembl ENSG00000163114 Ensembl
AllianceGenome HGNC:8807
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000295266.6 hg38 chr4 95,840,093 95,841,464 1,372
ENST00000295266.6 hg19 chr4 96,761,244 96,762,615 1,372
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