VWF c.5014G>C ;(p.G1672R)

Variant ID: 12-6127570-C-G

NM_000552.3(VWF):c.5014G>C;(p.G1672R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.

Blood Advances
Seidizadeh, Omid O; Baronciani, Luciano L; Pagliari, Maria Teresa MT; Cozzi, Giovanna G; Colpani, Paola P; Cairo, Andrea A; Siboni, Simona Maria SM; Biguzzi, Eugenia E; Peyvandi, Flora F
Publication Date: 2022-07-12

Variant appearance in text: VWF: G1672R
PubMed Link: 35452508
Variant Present in the following documents:
  • advancesADV2022007216.pdf
View BVdb publication page



Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.

Journal Of Thrombosis And Haemostasis : Jth
Wang, Q Y QY; Song, J J; Gibbs, R A RA; Boerwinkle, E E; Dong, J F JF; Yu, F L FL
Publication Date: 2013-02

Variant appearance in text: VWF: G1672R
PubMed Link: 23216583
Variant Present in the following documents:
  • Main text
View BVdb publication page