F8 c.1163T>C ;(p.I388T)

Variant ID: X-154194809-A-G

NM_000132.3(F8):c.1163T>C;(p.I388T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The evolving proteome of SARS-CoV-2 predominantly uses mutation combination strategy for survival.

Computational And Structural Biotechnology Journal
Patro, L Ponoop Prasad LPP; Sathyaseelan, Chakkarai C; Uttamrao, Patil Pranita PP; Rathinavelan, Thenmalarchelvi T
Publication Date: 2021

Variant appearance in text: F8C: I388T
PubMed Link: 34109017
Variant Present in the following documents:
  • mmc16.xlsx, sheet 1
  • mmc6.xlsx, sheet 1
  • mmc10.xlsx, sheet 1
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: I388T
PubMed Link: 31267011
Variant Present in the following documents:
  • 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A.

Haematologica
Bowyer, Annette E AE; Van Veen, Joost J JJ; Goodeve, Anne C AC; Kitchen, Steve S; Makris, Michael M
Publication Date: 2013-12

Variant appearance in text: FVIII: Ile388Thr
PubMed Link: 23812942
Variant Present in the following documents:
  • Main text
View BVdb publication page