chr17:64356203:C>A Detail (hg38) (PECAM1)

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

Genome

Assembly	Position
hg19
hg38	chr17:64,356,203-64,356,203

HGVS

PECAM1

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000563924.6:c.1688G>T	ENST00000563924.6:p.Ser563Ile

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

PECAM1

Type	Database	ID	Link
Gene	MIM	173445	OMIM
	HGNC	8823	HGNC
	Ensembl	ENSG00000261371	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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.010	atherosclerosis	The PECAM1 Leu125Val and Ser563Asn polymorphisms may increase the risk of athero...	BeFree	14575520	Detail
0.002	arteriosclerosis	The PECAM1 Leu125Val and Ser563Asn polymorphisms may increase the risk of athero...	BeFree	14575520	Detail
0.006	coronary artery disease	We have shown that there were a significant differences for the 53 G/A and V125L...	BeFree	20370486	Detail
0.008	myocardial infarction	Polymorphisms in the platelet-endothelial cell adhesion molecule-1 (PECAM-1) gen...	BeFree	11795274	Detail

Annotation

Annotations

Descrption	Source	Links
The PECAM1 Leu125Val and Ser563Asn polymorphisms may increase the risk of atherosclerosis but not ne...	DisGeNET	Detail
The PECAM1 Leu125Val and Ser563Asn polymorphisms may increase the risk of atherosclerosis but not ne...	DisGeNET	Detail
We have shown that there were a significant differences for the 53 G/A and V125L and N563S polymorph...	DisGeNET	Detail
Polymorphisms in the platelet-endothelial cell adhesion molecule-1 (PECAM-1) gene, Asn563Ser and Gly...	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: rs12953 dbSNP
Genome: hg38
Position: chr17:64,356,203-64,356,203
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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