VWF c.7176T>G ;(p.Y2392*)

Variant ID: 12-6091063-A-C

NM_000552.3(VWF):c.7176T>G;(p.Y2392*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05

Variant appearance in text: VWF: Y2392*
PubMed Link: 32371905
Variant Present in the following documents:
  • 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
View BVdb publication page



Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.

Thrombosis And Haemostasis
Hampshire, Daniel J DJ; Abuzenadah, Adel M AM; Cartwright, Ashley A; Al-Shammari, Nawal S NS; Coyle, Rachael E RE; Eckert, Michaela M; Al-Buhairan, Ahlam M AM; Messenger, Sarah L SL; Budde, Ulrich U; Gürsel, Türkiz T; Ingerslev, Jørgen J; Peake, Ian R IR; Goodeve, Anne C AC
Publication Date: 2013-08

Variant appearance in text: VWF: 7176T>G; Y2392*
PubMed Link: 23702511
Variant Present in the following documents:
  • Main text
View BVdb publication page