chr1:55063542:C>T 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	chr1:55,529,215-55,529,215 View the variant detail on this assembly version.
hg38	chr1:55,063,542-55,063,542

HGVS

PCSK9

Type	Transcript	Protein
RefSeq	NM_174936.3:c.2037C>T	NP_777596.2:p.Cys679=
Ensemble	ENST00000302118.5:c.2037C>T	ENST00000302118.5:p.Cys679=
	ENST00000673903.1:c.1662C>T	ENST00000673903.1:p.Cys554=
	ENST00000710286.1:c.2394C>T	ENST00000710286.1:p.Cys798=
	ENST00000713786.1:c.2160C>T	ENST00000713786.1:p.Cys720=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely benign
Review star
Show details

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
Likely benign	2023-10-14	criteria provided, single submitter	Hypercholesterolemia, autosomal dominant, 3	germline	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

Descrption	Source	Links
NM_174936.4(PCSK9):c.2037C>T (p.Cys679=) AND Hypercholesterolemia, autosomal dominant, 3	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: -
Genome: hg38
Position: chr1:55,063,542-55,063,542
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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