chr1:55523127:G>A Detail (hg19) (PCSK9)

Information

Genome

Assembly Position
hg19 chr1:55,523,127-55,523,127
hg38 chr1:55,057,454-55,057,454 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_174936.3:c.1120G>A NP_777596.2:p.Asp374Asn
Ensemble ENST00000302118.5:c.1120G>A ENST00000302118.5:p.Asp374Asn
ENST00000673903.1:c.745G>A ENST00000673903.1:p.Asp249Asn
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 Uncertain significance
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 tgv1591607 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2022-07-08 criteria provided, single submitter familial hypercholesterolemia germline Detail
Uncertain significance 2023-03-29 criteria provided, single submitter not provided germline Detail
Uncertain significance 2023-12-07 criteria provided, single submitter Hypercholesterolemia, autosomal dominant, 3 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.013 Hypercholesterolemia, Familial We measured plasma PCSK9 concentrations in healthy men with a PCSK9 (proprotein ... BeFree 19797716 Detail
0.163 Hypercholesterolemia, Familial Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholeste... BeFree 19797716 Detail
0.162 Hypercholesterolemia Using this cell-based assay of PCSK9 activity, we found that the relative potenc... BeFree 17493938 Detail
0.009 Hyperlipoproteinemia Type IIa D374Y gain-of-function mutations in the proprotein convertase subtilisin/kexin t... BeFree 23283366 Detail
0.463 Hypercholesterolemia, Familial Analysis of long-term (30 years) clinical history and response to treatment of 1... BeFree 16224054 Detail
0.162 Hypercholesterolemia To block secreted PCSK9 activity, LDLR (H306Y) subfragments were added to the me... BeFree 19224862 Detail
0.428 Hypercholesterolemia The expression of human D374Y PCSK9 at physiological levels produced a phenotype... BeFree 20448210 Detail
0.360 Hypercholesterolemia, autosomal dominant, 3 NA CLINVAR Detail
0.162 Hypercholesterolemia Severe hypercholesterolemia in four British families with the D374Y mutation in ... BeFree 16224054 Detail
0.163 Hypercholesterolemia, Familial Analysis of long-term (30 years) clinical history and response to treatment of 1... BeFree 16224054 Detail
0.162 Hypercholesterolemia These mutations define areas outside the direct interaction area between PCSK9 a... BeFree 25744035 Detail
0.428 Hypercholesterolemia To block secreted PCSK9 activity, LDLR (H306Y) subfragments were added to the me... BeFree 19224862 Detail
0.162 Hypercholesterolemia The objective of this study was to investigate possible mechanisms by which muta... BeFree 16777760 Detail
0.004 arteriosclerosis To produce transgenic mice expressing the D374Y variant of the human proprotein ... BeFree 20448210 Detail
0.428 Hypercholesterolemia These mutations define areas outside the direct interaction area between PCSK9 a... BeFree 25744035 Detail
0.012 atherosclerosis To produce transgenic mice expressing the D374Y variant of the human proprotein ... BeFree 20448210 Detail
0.162 Hypercholesterolemia The expression of human D374Y PCSK9 at physiological levels produced a phenotype... BeFree 20448210 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_174936.4(PCSK9):c.1120G>A (p.Asp374Asn) AND Familial hypercholesterolemia ClinVar Detail
NM_174936.4(PCSK9):c.1120G>A (p.Asp374Asn) AND not provided ClinVar Detail
NM_174936.4(PCSK9):c.1120G>A (p.Asp374Asn) AND Hypercholesterolemia, autosomal dominant, 3 ClinVar Detail
We measured plasma PCSK9 concentrations in healthy men with a PCSK9 (proprotein convertase subtilisi... DisGeNET Detail
Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients car... DisGeNET Detail
Using this cell-based assay of PCSK9 activity, we found that the relative potencies of several PCSK9... DisGeNET Detail
D374Y gain-of-function mutations in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene c... DisGeNET Detail
Analysis of long-term (30 years) clinical history and response to treatment of 13 patients with the ... DisGeNET Detail
To block secreted PCSK9 activity, LDLR (H306Y) subfragments were added to the medium of HepG2 cells ... DisGeNET Detail
The expression of human D374Y PCSK9 at physiological levels produced a phenotype that closely matche... DisGeNET Detail
NA DisGeNET Detail
Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: long... DisGeNET Detail
Analysis of long-term (30 years) clinical history and response to treatment of 13 patients with the ... DisGeNET Detail
These mutations define areas outside the direct interaction area between PCSK9 and the LDL-R that co... DisGeNET Detail
To block secreted PCSK9 activity, LDLR (H306Y) subfragments were added to the medium of HepG2 cells ... DisGeNET Detail
The objective of this study was to investigate possible mechanisms by which mutation D374Y in the PC... DisGeNET Detail
To produce transgenic mice expressing the D374Y variant of the human proprotein convertase subtilisi... DisGeNET Detail
These mutations define areas outside the direct interaction area between PCSK9 and the LDL-R that co... DisGeNET Detail
To produce transgenic mice expressing the D374Y variant of the human proprotein convertase subtilisi... DisGeNET Detail
The expression of human D374Y PCSK9 at physiological levels produced a phenotype that closely matche... 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
rs137852912 dbSNP
Genome
hg19
Position
chr1:55,523,127-55,523,127
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8522
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)
119070
Allele Counts in All Race (ExAC)
10
Heterozygous Counts in All Race (ExAC)
10
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.398421096833795E-5
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