MVK mevalonate kinase

Information
Symbol
MVK
Type
protein-coding
Description
mevalonate kinase
Entrez Gene ID
4598
Genome
hg19
Position
chr12:110,011,599-110,035,930
Genome
hg38
Position
chr12:109,573,794-109,598,125
MIM
251170 OMIM
HGNC
HGNC:7530 HGNC
Ensembl
ENSG00000110921 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 18 140
Likely pathogenic 0 86
Benign 0 128
Likely benign 0 570
Conflicting classifications of pathogenicity 0 86
not provided 0 78
Uncertain significance 2 394
Ranking
ClinVar
0
0
248
992
30
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 LRBP
SYNONYM MK
SYNONYM MVLK
SYNONYM POROK3
MIM 251170 OMIM
HGNC HGNC:7530 HGNC
Ensembl ENSG00000110921 Ensembl
AllianceGenome HGNC:7530
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000228510.8 hg38 chr12 109,573,794 109,598,125 24,332
ENST00000539696.6 hg38 chr12 109,573,805 109,597,262 23,458
ENST00000392727.7 hg38 chr12 109,573,837 109,597,261 23,425
ENST00000546277.6 hg38 chr12 109,573,280 109,597,235 23,956
ENST00000546277.6 hg19 chr12 110,011,085 110,035,040 23,956
ENST00000228510.8 hg19 chr12 110,011,599 110,035,930 24,332
ENST00000392727.7 hg19 chr12 110,011,642 110,035,066 23,425
ENST00000539696.6 hg19 chr12 110,011,610 110,035,067 23,458
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