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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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