VWF c.865_866inv ;(p.S289L)

Variant ID: 12-6184509-CT-AG

NM_000552.3(VWF):c.865_866inv;(p.S289L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cross-reacting Material-positive Hemophilia A Diagnosed in a Patient with a Spontaneous Thigh Hemorrhage.

Internal Medicine (Tokyo, Japan)
Saito, Tatsuya T; Mukae, Jyunichi J; Nakamura, Yosuke Y; Inaba, Hiroshi H; Nogami, Keiji K; Koyama, Takatoshi T; Fukutake, Katsuyuki K; Yamamoto, Koh K
Publication Date: 2017

Variant appearance in text: VWF: Ser289Leu
PubMed Link: 28674365
Variant Present in the following documents:
  • Main text
  • 1349-7235-56-1719.pdf
View BVdb publication page



Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.

Plos One
Nair, Preethi S PS; Shetty, Shrimati D SD; Chandrakala, S S; Ghosh, Kanjaksha K
Publication Date: 2014

Variant appearance in text: VWF: Ser289Leu
PubMed Link: 24845853
Variant Present in the following documents:
  • Main text
  • pone.0097337.pdf
View BVdb publication page