PCSK9 proprotein convertase subtilisin/kexin type 9

Information
Symbol
PCSK9
Type
protein-coding
Description
proprotein convertase subtilisin/kexin type 9
Entrez Gene ID
255738
Genome
hg19
Position
chr1:55,505,221-55,530,525
Genome
hg38
Position
chr1:55,039,548-55,064,852
MIM
607786 OMIM
HGNC
HGNC:20001 HGNC
Ensembl
ENSG00000169174 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 28
Likely pathogenic 4 14
Benign 12 128
Likely benign 0 848
Conflicting classifications of pathogenicity 0 248
Uncertain significance 10 1,254
Ranking
ClinVar
0
0
870
1,296
34
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 FH3
SYNONYM FHCL3
SYNONYM HCHOLA3
SYNONYM LDLCQ1
SYNONYM NARC-1
SYNONYM NARC1
SYNONYM PC9
MIM 607786 OMIM
HGNC HGNC:20001 HGNC
Ensembl ENSG00000169174 Ensembl
AllianceGenome HGNC:20001
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000302118.5 hg38 chr1 55,039,548 55,064,852 25,305
ENST00000673903.1 hg38 chr1 55,040,295 55,064,797 24,503
ENST00000710286.1 hg38 chr1 55,039,456 55,064,852 25,397
ENST00000713786.1 hg38 chr1 55,039,468 55,064,852 25,385
ENST00000710286.1 hg19 chr1 55,505,129 55,530,525 25,397
ENST00000713786.1 hg19 chr1 55,505,141 55,530,525 25,385
ENST00000302118.5 hg19 chr1 55,505,221 55,530,525 25,305
ENST00000673903.1 hg19 chr1 55,505,968 55,530,470 24,503
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