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F8 c.5392G>A ;(p.A1798T)
Variant ID: X-154133280-C-T
NM_000132.3(
F8
):c.5392G>A;(p.A1798T)
This variant was identified in 2 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: F8: A1798T
PubMed Link:
31267011
Variant Present in the following documents:
41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Molecular mechanisms of missense mutations that generate ectopic N-glycosylation sites in coagulation factor VIII.
The Biochemical Journal
Wei, Wei W; Misra, Saurav S; Cannon, Matthew V MV; Yang, Renchi R; Zhu, Xiaofan X; Gilmore, Reid R; Zhu, Min M; Zhang, Bin B
Publication Date: 2018-03-06
Variant appearance in text: FVIII: 5392G>A
PubMed Link:
29444815
Variant Present in the following documents:
Main text
View BVdb publication page