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F8 c.5275G>A ;(p.D1759N)
Variant ID: X-154134793-C-T
NM_000132.3(
F8
):c.5275G>A;(p.D1759N)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: 5275G>A
PubMed Link:
29444815
Variant Present in the following documents:
Main text
View BVdb publication page