VWF c.5335C>T ;(p.R1779*)

Variant ID: 12-6125375-G-A

NM_000552.3(VWF):c.5335C>T;(p.R1779*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.

Life (Basel, Switzerland)
Gindele, Réka R; Kerényi, Adrienne A; Kállai, Judit J; Pfliegler, György G; Schlammadinger, Ágota Á; Szegedi, István I; Major, Tamás T; Szabó, Zsuzsanna Z; Bagoly, Zsuzsa Z; Kiss, Csongor C; Kappelmayer, János J; Bereczky, Zsuzsanna Z
Publication Date: 2021-03-05

Variant appearance in text: VWF: 5335C>T; Arg1779Ter
PubMed Link: 33807613
Variant Present in the following documents:
  • Main text
  • life-11-00202-s001.pdf
  • life-11-00202.pdf
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: VWF: 5335C>T; Arg1779*; rs61750606
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: VWF: 5335C>T; rs61750606
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients.

Plos One
Kasatkar, Priyanka P; Shetty, Shrimati S; Ghosh, Kanjaksha K
Publication Date: 2014

Variant appearance in text: VWF: 5335C>T; R1779*
PubMed Link: 24675615
Variant Present in the following documents:
  • Main text
  • pone.0092575.pdf
View BVdb publication page