PDP2 pyruvate dehydrogenase phosphatase catalytic subunit 2

Information
Symbol
PDP2
Type
protein-coding
Description
pyruvate dehydrogenase phosphatase catalytic subunit 2
Entrez Gene ID
57546
Genome
hg19
Position
chr16:66,914,418-66,925,004
Genome
hg38
Position
chr16:66,880,515-66,891,101
MIM
615499 OMIM
HGNC
HGNC:30263 HGNC
Ensembl
ENSG00000172840 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 12
Uncertain significance 0 62
Ranking
ClinVar
0
0
0
72
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
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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 :
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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Target data :
MGeND data only
Category :
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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 PDPC 2
SYNONYM PPM2B
SYNONYM PPM2C2
MIM 615499 OMIM
HGNC HGNC:30263 HGNC
Ensembl ENSG00000172840 Ensembl
AllianceGenome HGNC:30263
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000311765.4 hg38 chr16 66,880,515 66,891,101 10,587
ENST00000311765.4 hg19 chr16 66,914,418 66,925,004 10,587
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