VWF c.3538G>C ;(p.G1180R)

Variant ID: 12-6131906-C-G

NM_000552.3(VWF):c.3538G>C;(p.G1180R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Structures of VWF tubules before and after concatemerization reveal a mechanism of disulfide bond exchange.

Blood
Anderson, Jacob R JR; Li, Jing J; Springer, Timothy A TA; Brown, Alan A
Publication Date: 2022-09-22

Variant appearance in text: VWF: G1180R
PubMed Link: 35776905
Variant Present in the following documents:
  • bloodBLD2022016467-suppl1.pdf
  • 10.1182-2022016467_bloodbld2022016467-suppl1.pdf
View BVdb publication page



Laboratory variability in the diagnosis of type 2 VWD variants.

Journal Of Thrombosis And Haemostasis : Jth
DiGiandomenico, Stefanie S; Christopherson, Pamela A PA; Haberichter, Sandra L SL; Abshire, Thomas C TC; Montgomery, Robert R RR; Flood, Veronica H VH; ,
Publication Date: 2021-01

Variant appearance in text: VWF: G1180R
PubMed Link: 33049112
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparison of type I, type III and type VI collagen binding assays in diagnosis of von Willebrand disease.

Journal Of Thrombosis And Haemostasis : Jth
Flood, V H VH; Gill, J C JC; Christopherson, P A PA; Wren, J S JS; Friedman, K D KD; Haberichter, S L SL; Hoffmann, R G RG; Montgomery, R R RR
Publication Date: 2012-07

Variant appearance in text: VWF: G1180R
PubMed Link: 22507643
Variant Present in the following documents:
  • Main text
View BVdb publication page