F8 c.6277G>C ;(p.D2093H)

Variant ID: X-154124504-C-G

NM_000132.3(F8):c.6277G>C;(p.D2093H)

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: D2093H
PubMed Link: 31267011
Variant Present in the following documents:
  • 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



HLA-DRB1-factor VIII binding is a risk factor for inhibitor development in nonsevere hemophilia: a case-control study.

Blood Advances
Kempton, Christine L CL; Payne, Amanda B AB
Publication Date: 2018-07-24

Variant appearance in text: F8: Asp2093His
PubMed Link: 30037801
Variant Present in the following documents:
  • Main text
View BVdb publication page