chr1:55063542:C>A Detail (hg38) (PCSK9)

Information

Genome

Assembly Position
hg19 chr1:55,529,215-55,529,215 View the variant detail on this assembly version.
hg38 chr1:55,063,542-55,063,542

HGVS

Type Transcript Protein
RefSeq NM_174936.3:c.2037C>A NP_777596.2:p.Cys679Ter
Ensemble ENST00000302118.5:c.2037C>A ENST00000302118.5:p.Cys679Ter
ENST00000673903.1:c.1662C>A ENST00000673903.1:p.Cys554Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 607786 OMIM
HGNC 20001 HGNC
Ensembl ENSG00000169174 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv298611952 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
association 2006-03-23 no assertion criteria provided Low density lipoprotein cholesterol level quantitative trait locus 1 germline Detail
Pathogenic no assertion criteria provided germline Detail
Conflicting interpretations of pathogenicity 2024-01-25 criteria provided, conflicting interpretations Hypercholesterolemia, autosomal dominant, 3 germline Detail
Benign 2022-01-01 criteria provided, single submitter familial hypercholesterolemia germline Detail
Conflicting interpretations of pathogenicity 2023-05-02 criteria provided, conflicting interpretations not provided germline Detail
Conflicting interpretations of pathogenicity 2021-09-22 criteria provided, conflicting interpretations not specified germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 atherosclerosis The Atherosclerosis Risk in Communities (ARIC) Study assessed risk factors and P... BeFree 18436227 Detail
0.004 arteriosclerosis The Atherosclerosis Risk in Communities (ARIC) Study assessed risk factors and P... BeFree 18436227 Detail
<0.001 arteriosclerosis The Atherosclerosis Risk in Communities (ARIC) Study assessed risk factors and P... BeFree 18436227 Detail
0.012 atherosclerosis The Atherosclerosis Risk in Communities (ARIC) Study assessed risk factors and P... BeFree 18436227 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) AND Low density lipoprotein cholesterol level quantitativ... ClinVar Detail
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) AND Hypocholesterolemia ClinVar Detail
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) AND Hypercholesterolemia, autosomal dominant, 3 ClinVar Detail
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) AND Familial hypercholesterolemia ClinVar Detail
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) AND not provided ClinVar Detail
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) AND not specified ClinVar Detail
The Atherosclerosis Risk in Communities (ARIC) Study assessed risk factors and PCSK9 variants Y142X ... DisGeNET Detail
The Atherosclerosis Risk in Communities (ARIC) Study assessed risk factors and PCSK9 variants Y142X ... DisGeNET Detail
The Atherosclerosis Risk in Communities (ARIC) Study assessed risk factors and PCSK9 variants Y142X ... DisGeNET Detail
The Atherosclerosis Risk in Communities (ARIC) Study assessed risk factors and PCSK9 variants Y142X ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs28362286 dbSNP
Genome
hg38
Position
chr1:55,063,542-55,063,542
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8436
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
115394
Allele Counts in All Race (ExAC)
90
Heterozygous Counts in All Race (ExAC)
88
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
7.799365651593671E-4
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