F8 c.1018G>A ;(p.E340K)

Variant ID: X-154194954-C-T

NM_000132.3(F8):c.1018G>A;(p.E340K)

This variant was identified in 4 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: FVIII: E340K
PubMed Link: 31267011
Variant Present in the following documents:
  • 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_45916_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Complexity and diversity of F8 genetic variations in the 1000 genomes.

Journal Of Thrombosis And Haemostasis : Jth
Li, J N JN; Carrero, I G IG; Dong, J F JF; Yu, F L FL
Publication Date: 2015-11

Variant appearance in text: F8: E340K
PubMed Link: 26383047
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: F8: E340K
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
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: Glu340Lys
PubMed Link: 23812942
Variant Present in the following documents:
  • Main text
View BVdb publication page