PMVK phosphomevalonate kinase

Information
Symbol
PMVK
Type
protein-coding
Description
phosphomevalonate kinase
Entrez Gene ID
10654
Genome
hg19
Position
chr1:154,897,216-154,909,195
Genome
hg38
Position
chr1:154,924,740-154,936,719
MIM
607622 OMIM
HGNC
HGNC:9141 HGNC
Ensembl
ENSG00000163344 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 6
Benign 0 14
Likely benign 0 4
Uncertain significance 0 26
Ranking
ClinVar
0
0
6
36
10
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 HUMPMKI
SYNONYM PMK
SYNONYM PMKA
SYNONYM PMKASE
SYNONYM POROK1
MIM 607622 OMIM
HGNC HGNC:9141 HGNC
Ensembl ENSG00000163344 Ensembl
AllianceGenome HGNC:9141
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000368467.4 hg38 chr1 154,924,740 154,936,719 11,980
ENST00000368467.4 hg19 chr1 154,897,216 154,909,195 11,980
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