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