VWF c.6504C>A ;(p.C2168*)

Variant ID: 12-6103122-G-T

NM_000552.3(VWF):c.6504C>A;(p.C2168*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease.

Croatian Medical Journal
Lapić, Ivana I; Radić Antolic, Margareta M; Boban, Ana A; Coen Herak, Desiree D; Rogić, Dunja D; Zadro, Renata R
Publication Date: 2022-04-30

Variant appearance in text: VWF: 6504C>A; Cys2168Ter
PubMed Link: 35505650
Variant Present in the following documents:
  • Main text
  • CroatMedJ_63_0166.pdf
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: VWF: C2168X
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 2
View BVdb publication page