Bibliome.ai browser hg19
Search
About
Stats
FAQ
VWF c.6569G>A ;(p.C2190Y)
Variant ID: 12-6103057-C-T
NM_000552.3(
VWF
):c.6569G>A;(p.C2190Y)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: C2190Y
PubMed Link:
27483487
Variant Present in the following documents:
Main text
View BVdb publication page