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F8 c.6595A>G ;(p.M2199V)
Variant ID: X-154090121-T-C
NM_000132.3(
F8
):c.6595A>G;(p.M2199V)
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:
Identification of pathogenic missense mutations using protein stability predictors.
Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21
Variant appearance in text: F8: M2199V
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
FVIII proteins with a modified immunodominant T-cell epitope exhibit reduced immunogenicity and normal FVIII activity.
Blood Advances
Ettinger, Ruth A RA; Liberman, Joseph A JA; Gunasekera, Devi D; Puranik, Komal K; James, Eddie A EA; Thompson, Arthur R AR; Pratt, Kathleen P KP
Publication Date: 2018-02-27
Variant appearance in text: FVIII: M2199V
PubMed Link:
29444872
Variant Present in the following documents:
Main text
View BVdb publication page