PCSK1 proprotein convertase subtilisin/kexin type 1

Information
Symbol
PCSK1
Type
protein-coding
Description
proprotein convertase subtilisin/kexin type 1
Entrez Gene ID
5122
Genome
hg19
Position
chr5:95,726,037-95,768,952
Genome
hg38
Position
chr5:96,390,333-96,433,248
MIM
162150 OMIM
HGNC
HGNC:8743 HGNC
Ensembl
ENSG00000175426 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 24
Likely pathogenic 0 26
Benign 0 68
Likely benign 0 174
Conflicting classifications of pathogenicity 0 42
Uncertain significance 0 282
Ranking
ClinVar
0
0
66
470
24
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 BMIQ12
SYNONYM NEC1
SYNONYM PC1
SYNONYM PC1/3
SYNONYM PC3
SYNONYM SPC3
MIM 162150 OMIM
HGNC HGNC:8743 HGNC
Ensembl ENSG00000175426 Ensembl
AllianceGenome HGNC:8743
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000311106.8 hg38 chr5 96,390,333 96,433,248 42,916
ENST00000508626.5 hg38 chr5 96,392,927 96,432,160 39,234
ENST00000311106.8 hg19 chr5 95,726,037 95,768,952 42,916
ENST00000508626.5 hg19 chr5 95,728,631 95,767,864 39,234
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