VWF c.1228T>A ;(p.C410S)

Variant ID: 12-6174368-A-T

NM_000552.3(VWF):c.1228T>A;(p.C410S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami.

Journal Of Thrombosis And Haemostasis : Jth
Obser, T T; Ledford-Kraemer, M M; Oyen, F F; Brehm, M A MA; Denis, C V CV; Marschalek, R R; Montgomery, R R RR; Sadler, J E JE; Schneppenheim, S S; Budde, U U; Schneppenheim, R R
Publication Date: 2016-09

Variant appearance in text: VWF: Cys410Ser
PubMed Link: 27344059
Variant Present in the following documents:
  • Main text
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