VWF c.4046A>G ;(p.Y1349C)

Variant ID: 12-6128538-T-C

NM_000552.3(VWF):c.4046A>G;(p.Y1349C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Clinical and laboratory phenotype variability in type 2M von Willebrand disease.

Journal Of Thrombosis And Haemostasis : Jth
Doruelo, A L AL; Haberichter, S L SL; Christopherson, P A PA; Boggio, L N LN; Gupta, S S; Lentz, S R SR; Shapiro, A D AD; Montgomery, R R RR; Flood, V H VH
Publication Date: 2017-08

Variant appearance in text: VWF: Y1349C
PubMed Link: 28544236
Variant Present in the following documents:
  • Main text
View BVdb publication page



Collagen binding provides a sensitive screen for variant von Willebrand disease.

Clinical Chemistry
Flood, Veronica H VH; Gill, Joan Cox JC; Friedman, Kenneth D KD; Christopherson, Pamela A PA; Jacobi, Paula M PM; Hoffmann, Raymond G RG; Montgomery, Robert R RR; Haberichter, Sandra L SL; ,
Publication Date: 2013-04

Variant appearance in text: VWF: Y1349C
PubMed Link: 23340442
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: Y1349C
PubMed Link: 22507643
Variant Present in the following documents:
  • Main text
View BVdb publication page