VWF c.142G>T ;(p.G48W)

Variant ID: 12-6230418-C-A

NM_000552.3(VWF):c.142G>T;(p.G48W)

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:

Human gastric cancer modelling using organoids.

Gut
Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE
Publication Date: 2019-02

Variant appearance in text: VWF: Gly48Trp
PubMed Link: 29703791
Variant Present in the following documents:
  • gutjnl-2017-314549supp010.xlsx, sheet 17
View BVdb publication page


Glanzmann thrombasthenia: state of the art and future directions.

Seminars In Thrombosis And Hemostasis
Nurden, Alan T AT; Pillois, Xavier X; Wilcox, David A DA
Publication Date: 2013-09

Variant appearance in text: VWF: Gly48Trp
PubMed Link: 23929305
Variant Present in the following documents:
  • Main text
View BVdb publication page