chr1:55044016:T>A Detail (hg38) (PCSK9)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr1:55,509,689-55,509,689 View the variant detail on this assembly version.
hg38	chr1:55,044,016-55,044,016

HGVS

PCSK9

Type	Transcript	Protein
RefSeq	NM_174936.3:c.381T>A	NP_777596.2:p.Ser127Arg
Ensemble	ENST00000302118.5:c.381T>A	ENST00000302118.5:p.Ser127Arg
	ENST00000673903.1:c.6T>A	ENST00000673903.1:p.Ser2Arg
	ENST00000710286.1:c.738T>A	ENST00000710286.1:p.Ser246Arg
	ENST00000713786.1:c.504T>A	ENST00000713786.1:p.Ser168Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
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Links

PCSK9

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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-01-12	criteria provided, multiple submitters, no conflicts	Hypercholesterolemia, autosomal dominant, 3	germline	Detail
Likely pathogenic	2016-03-01	criteria provided, single submitter	Hypercholesterolemia, familial, 1	not applicable germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.162	Hypercholesterolemia	Using this cell-based assay of PCSK9 activity, we found that the relative potenc...	BeFree	17493938	Detail
0.162	Hypercholesterolemia	To block secreted PCSK9 activity, LDLR (H306Y) subfragments were added to the me...	BeFree	19224862	Detail
0.360	Hypercholesterolemia, autosomal dominant, 3	NA	CLINVAR		Detail
0.428	Hypercholesterolemia	To block secreted PCSK9 activity, LDLR (H306Y) subfragments were added to the me...	BeFree	19224862	Detail
0.360	Hypercholesterolemia, autosomal dominant, 3	We mapped a third locus associated with ADH, HCHOLA3 at 1p32, and now report two...	UNIPROT	12730697	Detail

Annotation

Annotations

Descrption	Source	Links
NM_174936.4(PCSK9):c.381T>A (p.Ser127Arg) AND Hypercholesterolemia, autosomal dominant, 3	ClinVar	Detail
NM_174936.4(PCSK9):c.381T>A (p.Ser127Arg) AND Hypercholesterolemia, familial, 1	ClinVar	Detail
Using this cell-based assay of PCSK9 activity, we found that the relative potencies of several PCSK9...	DisGeNET	Detail
To block secreted PCSK9 activity, LDLR (H306Y) subfragments were added to the medium of HepG2 cells ...	DisGeNET	Detail
NA	DisGeNET	Detail
To block secreted PCSK9 activity, LDLR (H306Y) subfragments were added to the medium of HepG2 cells ...	DisGeNET	Detail
We mapped a third locus associated with ADH, HCHOLA3 at 1p32, and now report two mutations in the ge...	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: rs28942111 dbSNP
Genome: hg38
Position: chr1:55,044,016-55,044,016
Variant Type: snv
Reference Allele: T
Alternative Allele: A

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