F8 c.5188A>G ;(p.M1730V)

Variant ID: X-154156877-T-C

NM_000132.3(F8):c.5188A>G;(p.M1730V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Emicizumab in children: bleeding episodes and outcome before and after transition to Emicizumab.

Bmc Pediatrics
Glonnegger, Hannah H; Andresen, Felicia F; Kapp, Friedrich F; Malvestiti, Stefano S; Büchsel, Martin M; Zieger, Barbara B
Publication Date: 2022-08-15

Variant appearance in text: FVIII: Met1730Val
PubMed Link: 35965332
Variant Present in the following documents:
  • Main text
  • 12887_2022_Article_3546.pdf
View BVdb publication page



Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports
Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X
Publication Date: 2019-07-02

Variant appearance in text: FVIII: M1730V
PubMed Link: 31267011
Variant Present in the following documents:
  • 41598_2019_45916_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Distinguishing lupus anticoagulants from factor VIII inhibitors in haemophilic and non-haemophilic patients.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia
Rampersad, A G AG; Boylan, B B; Miller, C H CH; Shapiro, A A
Publication Date: 2018-09

Variant appearance in text: FVIII: 5188A>G
PubMed Link: 30004159
Variant Present in the following documents:
  • Main text
View BVdb publication page