VWF c.3951C>T ;(p.A1317=)

Variant ID: 12-6128633-G-A

NM_000552.3(VWF):c.3951C>T;(p.A1317=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogotá, Colombia.

Genes
Lago, Juliana J; Groot, Helena H; Navas, Diego D; Lago, Paula P; Gamboa, María M; Calderón, Dayana D; Polanía-Villanueva, Diana C DC
Publication Date: 2021-11-18

Variant appearance in text: VWF: 3951C>T; Ala1317Ala; rs561155315
PubMed Link: 34828413
Variant Present in the following documents:
  • Main text
  • genes-12-01807.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: VWF: 3951C>T; A1317A
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
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: 3951C>T; A1317A
PubMed Link: 24675615
Variant Present in the following documents:
  • Main text
  • pone.0092575.pdf
View BVdb publication page