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F8 c.5393C>T ;(p.A1798V)
Variant ID: X-154133279-G-A
NM_000132.3(
F8
):c.5393C>T;(p.A1798V)
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:
Detection of mosaics in hemophilia A by deep Ion Torrent sequencing and droplet digital PCR.
Research And Practice In Thrombosis And Haemostasis
Manderstedt, Eric E; Nilsson, Rosanna R; Ljung, Rolf R; Lind-Halldén, Christina C; Astermark, Jan J; Halldén, Christer C
Publication Date: 2020-10
Variant appearance in text: F8: 5393C>T
PubMed Link:
33134778
Variant Present in the following documents:
RTH2-4-1121.pdf
RTH2-4-1121-s001.pdf
View BVdb publication page
Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening.
Plos One
Manderstedt, Eric E; Nilsson, Rosanna R; Lind-Halldén, Christina C; Ljung, Rolf R; Astermark, Jan J; Halldén, Christer C
Publication Date: 2019
Variant appearance in text: F8: 5393C>T; Ala1798Val
PubMed Link:
31026269
Variant Present in the following documents:
Main text
pone.0216179.pdf
pone.0216179.s001.xlsx, sheet 1
View BVdb publication page