Hs06967600_cn

• Gene Symbol: VWF
• Assay Reference Genome Location: Chr.12:5969074 on build GRCh38
• Cytoband: 12p13.31

Target Gene Details

• Entrez Gene ID: 7450
• Gene Name: von Willebrand factor
• Gene Aliases: F8VWF, VWD
• Location: Chr.12:5948874-6124675 on Build GRCh38
• Assay Gene Location: Within Intron 45

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
VWF	NM_000552.4			NP_000543.2
	AK297600.1
	AK298097.1
	M10321.1			AAB59512.1
	X04385.1			CAA27972.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv468988	Chr.12:5413390 - 6141521 on Build GRCh38	Gain	NTF3 VWF ANO2
esv3580088	Chr.12:5598006 - 6123173 on Build GRCh38	Loss	VWF ANO2

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

extracellular matrix protein

Gene Ontology Categories:

Process(es)

platelet degranulation
cell adhesion
blood coagulation
blood coagulation, intrinsic pathway
hemostasis
response to wounding
platelet activation
extracellular matrix organization
cell-substrate adhesion
response to immobilization stress
protein homooligomerization

Function(s)

glycoprotein binding
protease binding
integrin binding
protein binding
collagen binding
immunoglobulin binding
identical protein binding
protein homodimerization activity
protein N-terminus binding
chaperone binding