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F8 c.5188A>G ;(p.M1730V)
Variant ID: X-154156877-T-C
NM_000132.3(
F8
):c.5188A>G;(p.M1730V)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Emicizumab in children: bleeding episodes and outcome before and after transition to Emicizumab.
Bmc Pediatrics
Glonnegger, Hannah H; Andresen, Felicia F; Kapp, Friedrich F; Malvestiti, Stefano S; Büchsel, Martin M; Zieger, Barbara B
Publication Date: 2022-08-15
Variant appearance in text: FVIII: Met1730Val
PubMed Link:
35965332
Variant Present in the following documents:
Main text
12887_2022_Article_3546.pdf
View BVdb publication page
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: M1730V
PubMed Link:
31267011
Variant Present in the following documents:
41598_2019_45916_MOESM3_ESM.xlsx, sheet 1
41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Distinguishing lupus anticoagulants from factor VIII inhibitors in haemophilic and non-haemophilic patients.
Haemophilia : The Official Journal Of The World Federation Of Hemophilia
Rampersad, A G AG; Boylan, B B; Miller, C H CH; Shapiro, A A
Publication Date: 2018-09
Variant appearance in text: FVIII: 5188A>G
PubMed Link:
30004159
Variant Present in the following documents:
Main text
View BVdb publication page