VWF c.5465T>G ;(p.V1822G)

Variant ID: 12-6122802-A-C

NM_000552.3(VWF):c.5465T>G;(p.V1822G)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms.

Blood Advances
Cartwright, Ashley A; Webster, Simon J SJ; de Jong, Annika A; Dirven, Richard J RJ; Bloomer, Lisa D S LDS; Al-Buhairan, Ahlam M AM; Budde, Ulrich U; Halldén, Christer C; Habart, David D; Goudemand, Jenny J; Peake, Ian R IR; Eikenboom, Jeroen C J JCJ; Goodeve, Anne C AC; Hampshire, Daniel J DJ
Publication Date: 2020-07-14

Variant appearance in text: VWF: Val1822Gly
PubMed Link: 32609846
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L.

Blood Transfusion = Trasfusione Del Sangue
Berber, Ergul E; Ozbil, Mehmet M; Brown, Christine C; Baslar, Zafer Z; Caglayan, S Hande SH; Lillicrap, David D
Publication Date: 2017-10

Variant appearance in text: VWF: V1822G
PubMed Link: 27483487
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pregnancy and delivery in women with von Willebrand's disease and different von Willebrand factor mutations.

Haematologica
Castaman, Giancarlo G; Tosetto, Alberto A; Rodeghiero, Francesco F
Publication Date: 2010-06

Variant appearance in text: VWF: V1822G
PubMed Link: 19951969
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: V1822G
PubMed Link: 18344424
Variant Present in the following documents:
  • Main text
View BVdb publication page