VWF c.4508T>C ;(p.L1503P)

Variant ID: 12-6128076-A-G

NM_000552.3(VWF):c.4508T>C;(p.L1503P)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Whole-exome sequencing of epithelial ovarian carcinomas differing in resistance to platinum therapy.

Life Science Alliance
Hlaváč, Viktor V; Holý, Petr P; Václavíková, Radka R; Rob, Lukáš L; Hruda, Martin M; Mrhalová, Marcela M; Černaj, Petr P; Bouda, Jiří J; Souček, Pavel P
Publication Date: 2022-10-13

Variant appearance in text: VWF: Leu1503Pro
PubMed Link: 36229065
Variant Present in the following documents:
  • LSA-2022-01551_TableS16.xlsx, sheet 1
View BVdb publication page



Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset.

Frontiers In Endocrinology
Rossetti, Raffaella R; Moleri, Silvia S; Guizzardi, Fabiana F; Gentilini, Davide D; Libera, Laura L; Marozzi, Anna A; Moretti, Costanzo C; Brancati, Francesco F; Bonomi, Marco M; Persani, Luca L
Publication Date: 2021

Variant appearance in text: VWF: 4508T>C; Leu1503Pro
PubMed Link: 34803902
Variant Present in the following documents:
  • Main text
  • fendo-12-664645.pdf
View BVdb publication page



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: 4508T>C; Leu1503Pro
PubMed Link: 33807613
Variant Present in the following documents:
  • Main text
  • life-11-00202-s001.pdf
  • life-11-00202.pdf
View BVdb publication page



Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019

Variant appearance in text: VWF: 4508T>C; Leu1503Pro
PubMed Link: 30608972
Variant Present in the following documents:
  • pone.0210079.s007.xlsx, sheet 22
  • pone.0210079.s007.xlsx, sheet 4
  • pone.0210079.s007.xlsx, sheet 21
  • pone.0210079.s007.xlsx, sheet 20
  • pone.0210079.s007.xlsx, sheet 19
View BVdb publication page



Structural specializations of A2, a force-sensing domain in the ultralarge vascular protein von Willebrand factor.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Zhang, Qing Q; Zhou, Yan-Feng YF; Zhang, Cheng-Zhong CZ; Zhang, Xiaohui X; Lu, Chafen C; Springer, Timothy A TA
Publication Date: 2009-06-09

Variant appearance in text: VWF: L1503P
PubMed Link: 19470641
Variant Present in the following documents:
  • Main text
View BVdb publication page