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.




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