PDHA1 pyruvate dehydrogenase E1 subunit alpha 1

Information
Symbol
PDHA1
Type
protein-coding
Description
pyruvate dehydrogenase E1 subunit alpha 1
Entrez Gene ID
5160
Genome
hg19
Position
chrX:19,362,045-19,379,836
Genome
hg38
Position
chrX:19,343,927-19,361,718
MIM
300502 OMIM
HGNC
HGNC:8806 HGNC
Ensembl
ENSG00000131828 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 7 180
Likely pathogenic 6 106
Benign 0 190
Likely benign 0 456
Conflicting classifications of pathogenicity 0 52
not provided 8 0
Uncertain significance 0 224
Ranking
ClinVar
0
18
150
898
42
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 E1alpha
SYNONYM PDHA
SYNONYM PDHAD
SYNONYM PDHCE1A
SYNONYM PHE1A
MIM 300502 OMIM
HGNC HGNC:8806 HGNC
Ensembl ENSG00000131828 Ensembl
AllianceGenome HGNC:8806
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000355808.10 hg38 chrX 19,343,927 19,361,678 17,752
ENST00000540249.5 hg38 chrX 19,343,893 19,361,705 17,813
ENST00000422285.7 hg38 chrX 19,343,927 19,361,718 17,792
ENST00000423505.6 hg38 chrX 19,343,927 19,361,718 17,792
ENST00000417819.6 hg38 chrX 19,343,963 19,359,839 15,877
ENST00000540249.5 hg19 chrX 19,362,011 19,379,823 17,813
ENST00000355808.10 hg19 chrX 19,362,045 19,379,796 17,752
ENST00000422285.7 hg19 chrX 19,362,045 19,379,836 17,792
ENST00000423505.6 hg19 chrX 19,362,045 19,379,836 17,792
ENST00000417819.6 hg19 chrX 19,362,081 19,377,957 15,877
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