VWF c.8078G>A ;(p.C2693Y)

Variant ID: 12-6061594-C-T

NM_000552.3(VWF):c.8078G>A;(p.C2693Y)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Crucial role for the VWF A1 domain in binding to type IV collagen.

Blood
Flood, Veronica H VH; Schlauderaff, Abraham C AC; Haberichter, Sandra L SL; Slobodianuk, Tricia L TL; Jacobi, Paula M PM; Bellissimo, Daniel B DB; Christopherson, Pamela A PA; Friedman, Kenneth D KD; Gill, Joan Cox JC; Hoffmann, Raymond G RG; Montgomery, Robert R RR; ,
Publication Date: 2015-04-02

Variant appearance in text: VWF: C2693Y
PubMed Link: 25662333
Variant Present in the following documents:
  • Main text
View BVdb publication page



Collagen binding provides a sensitive screen for variant von Willebrand disease.

Clinical Chemistry
Flood, Veronica H VH; Gill, Joan Cox JC; Friedman, Kenneth D KD; Christopherson, Pamela A PA; Jacobi, Paula M PM; Hoffmann, Raymond G RG; Montgomery, Robert R RR; Haberichter, Sandra L SL; ,
Publication Date: 2013-04

Variant appearance in text: VWF: C2693Y
PubMed Link: 23340442
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD).

Blood
Haberichter, Sandra L SL; Castaman, Giancarlo G; Budde, Ulrich U; Peake, Ian I; Goodeve, Anne A; Rodeghiero, Francesco F; Federici, Augusto B AB; Batlle, Javier J; Meyer, Dominique D; Mazurier, Claudine C; Goudemand, Jenny J; Eikenboom, Jeroen J; Schneppenheim, Reinhard R; Ingerslev, Jorgen J; Vorlova, Zdena Z; Habart, David D; Holmberg, Lars L; Lethagen, Stefan S; Pasi, John J; Hill, Frank G H FG; Montgomery, Robert R RR
Publication Date: 2008-05-15

Variant appearance in text: VWF: C2693Y
PubMed Link: 18344424
Variant Present in the following documents:
  • Main text
View BVdb publication page