DLD dihydrolipoamide dehydrogenase

Information
Symbol
DLD
Type
protein-coding
Description
dihydrolipoamide dehydrogenase
Entrez Gene ID
1738
Genome
hg19
Position
chr7:107,531,628-107,561,643
Genome
hg38
Position
chr7:107,891,183-107,921,198
MIM
238331 OMIM
HGNC
HGNC:2898 HGNC
Ensembl
ENSG00000091140 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 90
Likely pathogenic 0 140
Benign 0 92
Likely benign 0 660
Conflicting classifications of pathogenicity 0 42
not provided 0 2
Uncertain significance 0 260
Ranking
ClinVar
0
0
136
1,054
10
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 :
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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 DLDD
SYNONYM DLDH
SYNONYM E3
SYNONYM GCSL
SYNONYM LAD
SYNONYM OGDC-E3
SYNONYM PHE3
MIM 238331 OMIM
HGNC HGNC:2898 HGNC
Ensembl ENSG00000091140 Ensembl
AllianceGenome HGNC:2898
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000437604.6 hg38 chr7 107,891,174 107,919,655 28,482
ENST00000440410.5 hg38 chr7 107,891,173 107,919,713 28,541
ENST00000205402.10 hg38 chr7 107,891,183 107,921,198 30,016
ENST00000440410.5 hg19 chr7 107,531,618 107,560,158 28,541
ENST00000437604.6 hg19 chr7 107,531,619 107,560,100 28,482
ENST00000205402.10 hg19 chr7 107,531,628 107,561,643 30,016
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