VWF c.2572T>A ;(p.C858S)

Variant ID: 12-6143967-A-T

NM_000552.3(VWF):c.2572T>A;(p.C858S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses.

Annals Of Laboratory Medicine
Kim, Hee Jung HJ; Kim, Soon Ki SK; Yoo, Ki Young KY; Lee, Ki O KO; Yun, Jae Won JW; Kim, Sun Hee SH; Kim, Hee Jin HJ; Park, Sang Kyu SK
Publication Date: 2019-11

Variant appearance in text: VWF: C858S
PubMed Link: 31240882
Variant Present in the following documents:
  • Main text
  • alm-39-545.pdf
View BVdb publication page



Solution structure of the major factor VIII binding region on von Willebrand factor.

Blood
Shiltagh, Nuha N; Kirkpatrick, John J; Cabrita, Lisa D LD; McKinnon, Tom A J TA; Thalassinos, Konstantinos K; Tuddenham, Edward G D EG; Hansen, D Flemming DF
Publication Date: 2014-06-26

Variant appearance in text: VWF: C858S
PubMed Link: 24700780
Variant Present in the following documents:
  • Main text
View BVdb publication page