F8 c.575T>C ;(p.I192T)

Variant ID: X-154221237-A-G

NM_000132.3(F8):c.575T>C;(p.I192T)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Applicability of the Thrombin Generation Test to Evaluate the Hemostatic Status of Hemophilia A Patients in Daily Clinical Practice.

Journal Of Clinical Medicine
Bernardo, Ángel Á; Caro, Alberto A; Martínez-Carballeira, Daniel D; Corte, José Ramón JR; Vázquez, Sonia S; Palomo-Antequera, Carmen C; Andreu, Alfredo A; Fernández-Pardo, Álvaro Á; Oto, Julia J; Gutiérrez, Laura L; Soto, Inmaculada I; Medina, Pilar P
Publication Date: 2022-06-10

Variant appearance in text: F8: Ile192Thr
PubMed Link: 35743412
Variant Present in the following documents:
  • jcm-11-03345.pdf
View BVdb publication page



Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations.

Clinical Case Reports
Nasirnejad Sola, Farzaneh F; Morovvati, Saeid S; Sabetghadam Moghadam, Mitra M; Entezari, Malihe M
Publication Date: 2020-12

Variant appearance in text: F8: 575T>C
PubMed Link: 33363863
Variant Present in the following documents:
  • Main text
  • CCR3-8-2976.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: F8: I192T
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: F8: 575T>C
PubMed Link: 29296726
Variant Present in the following documents:
  • Main text
View BVdb publication page