MDH1 malate dehydrogenase 1

Information
Symbol
MDH1
Type
protein-coding
Description
malate dehydrogenase 1
Entrez Gene ID
4190
Genome
hg19
Position
chr2:63,816,097-63,834,331
Genome
hg38
Position
chr2:63,588,963-63,607,197
MIM
154200 OMIM
HGNC
HGNC:6970 HGNC
Ensembl
ENSG00000014641 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely benign 0 16
Uncertain significance 0 26
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 :
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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 DEE88
SYNONYM EIEE88
SYNONYM HEL-S-32
SYNONYM KAR
SYNONYM MDH-s
SYNONYM MDHA
SYNONYM MGC:1375
SYNONYM MOR2
MIM 154200 OMIM
HGNC HGNC:6970 HGNC
Ensembl ENSG00000014641 Ensembl
AllianceGenome HGNC:6970
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000409476.5 hg38 chr2 63,588,973 63,607,091 18,119
ENST00000544381.4 hg38 chr2 63,588,609 63,607,194 18,586
ENST00000539945.7 hg38 chr2 63,588,963 63,607,197 18,235
ENST00000409908.5 hg38 chr2 63,588,958 63,607,091 18,134
ENST00000233114.13 hg38 chr2 63,588,963 63,607,197 18,235
ENST00000432309.6 hg38 chr2 63,589,151 63,607,194 18,044
ENST00000544381.4 hg19 chr2 63,815,743 63,834,328 18,586
ENST00000409908.5 hg19 chr2 63,816,092 63,834,225 18,134
ENST00000233114.13 hg19 chr2 63,816,097 63,834,331 18,235
ENST00000539945.7 hg19 chr2 63,816,097 63,834,331 18,235
ENST00000409476.5 hg19 chr2 63,816,107 63,834,225 18,119
ENST00000432309.6 hg19 chr2 63,816,285 63,834,328 18,044
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