MCEE methylmalonyl-CoA epimerase

Information
Symbol
MCEE
Type
protein-coding
Description
methylmalonyl-CoA epimerase
Entrez Gene ID
84693
Genome
hg19
Position
chr2:71,336,817-71,357,359
Genome
hg38
Position
chr2:71,109,687-71,130,229
MIM
608419 OMIM
HGNC
HGNC:16732 HGNC
Ensembl
ENSG00000124370 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 6
Benign 0 30
Likely benign 0 102
Conflicting classifications of pathogenicity 0 12
Uncertain significance 0 68
Ranking
ClinVar
0
0
26
180
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
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 GLOD2
SYNONYM MCE
SYNONYM MMCE
MIM 608419 OMIM
HGNC HGNC:16732 HGNC
Ensembl ENSG00000124370 Ensembl
AllianceGenome HGNC:16732
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000244217.6 hg38 chr2 71,109,687 71,130,229 20,543
ENST00000244217.6 hg19 chr2 71,336,817 71,357,359 20,543
Genome browser