VWF c.2642T>G ;(p.L881R)

Variant ID: 12-6143897-A-C

NM_000552.3(VWF):c.2642T>G;(p.L881R)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Von Willebrand Disease: From In Vivo to In Vitro Disease Models.

Hemasphere
de Boer, Suzan S; Eikenboom, Jeroen J
Publication Date: 2019-10

Variant appearance in text: VWF: L881R
PubMed Link: 31942548
Variant Present in the following documents:
  • hs9-3-e297.pdf
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: L881R
PubMed Link: 27483487
Variant Present in the following documents:
  • Main text
View BVdb publication page