F8 c.3263C>T ;(p.T1088I)

Variant ID: X-154158802-G-A

NM_000132.3(F8):c.3263C>T;(p.T1088I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: F8: T1088I
PubMed Link: 31267011
Variant Present in the following documents:
  • 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative.

Blood Advances
Johnsen, Jill M JM; Fletcher, Shelley N SN; Huston, Haley H; Roberge, Sarah S; Martin, Beth K BK; Kircher, Martin M; Josephson, Neil C NC; Shendure, Jay J; Ruuska, Sarah S; Koerper, Marion A MA; Morales, Jaime J; Pierce, Glenn F GF; Aschman, Diane J DJ; Konkle, Barbara A BA
Publication Date: 2017-05-23

Variant appearance in text: FVIII: 3263C>T
PubMed Link: 29296726
Variant Present in the following documents:
  • Main text
View BVdb publication page