VWF c.3815G>A ;(p.C1272Y)

Variant ID: 12-6128769-C-T

NM_000552.3(VWF):c.3815G>A;(p.C1272Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.

Medicine
Veyradier, Agnès A; Boisseau, Pierre P; Fressinaud, Edith E; Caron, Claudine C; Ternisien, Catherine C; Giraud, Mathilde M; Zawadzki, Christophe C; Trossaert, Marc M; Itzhar-Baïkian, Nathalie N; Dreyfus, Marie M; d'Oiron, Roseline R; Borel-Derlon, Annie A; Susen, Sophie S; Bezieau, Stéphane S; Denis, Cécile V CV; Goudemand, Jenny J; ,
Publication Date: 2016-03

Variant appearance in text: VWF: Cys1272Tyr
PubMed Link: 26986123
Variant Present in the following documents:
  • Main text
  • medi-95-e3038.pdf
View BVdb publication page



Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.

Blood
Jacobi, Paula M PM; Gill, Joan Cox JC; Flood, Veronica H VH; Jakab, David A DA; Friedman, Kenneth D KD; Haberichter, Sandra L SL
Publication Date: 2012-05-10

Variant appearance in text: VWF: C1272Y
PubMed Link: 22431572
Variant Present in the following documents:
  • Main text
View BVdb publication page