MDH1B malate dehydrogenase 1B

Information
Symbol
MDH1B
Type
protein-coding
Description
malate dehydrogenase 1B
Entrez Gene ID
130752
Genome
hg19
Position
chr2:207,602,487-207,630,052
Genome
hg38
Position
chr2:206,737,763-206,765,328
HGNC
HGNC:17836 HGNC
Ensembl
ENSG00000138400 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
Uncertain significance 0 62
Ranking
ClinVar
0
0
0
68
0
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 :
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 RP11-95H11
HGNC HGNC:17836 HGNC
Ensembl ENSG00000138400 Ensembl
AllianceGenome HGNC:17836
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000449792.5 hg38 chr2 206,738,225 206,765,326 27,102
ENST00000454776.6 hg38 chr2 206,738,257 206,765,286 27,030
ENST00000374412.8 hg38 chr2 206,737,763 206,765,328 27,566
ENST00000374412.8 hg19 chr2 207,602,487 207,630,052 27,566
ENST00000449792.5 hg19 chr2 207,602,949 207,630,050 27,102
ENST00000454776.6 hg19 chr2 207,602,981 207,630,010 27,030
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