MVD mevalonate diphosphate decarboxylase

Information
Symbol
MVD
Type
protein-coding
Description
mevalonate diphosphate decarboxylase
Entrez Gene ID
4597
Genome
hg19
Position
chr16:88,718,348-88,729,499
Genome
hg38
Position
chr16:88,651,940-88,663,091
MIM
603236 OMIM
HGNC
HGNC:7529 HGNC
Ensembl
ENSG00000167508 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 2
Benign 0 14
Likely benign 0 18
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 86
Ranking
ClinVar
0
0
8
104
12
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 FP17780
SYNONYM MDDase
SYNONYM MPD
SYNONYM POROK7
MIM 603236 OMIM
HGNC HGNC:7529 HGNC
Ensembl ENSG00000167508 Ensembl
AllianceGenome HGNC:7529
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000301012.8 hg38 chr16 88,651,940 88,663,091 11,152
ENST00000301012.8 hg19 chr16 88,718,348 88,729,499 11,152
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