F8 c.5879G>A ;(p.R1960Q)

Variant ID: X-154132300-C-T

NM_000132.3(F8):c.5879G>A;(p.R1960Q)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Desmopressin for bleeding in non-severe hemophilia A: Suboptimal use in a real-world setting.

Research And Practice In Thrombosis And Haemostasis
Zwagemaker, Anne-Fleur AF; Kloosterman, Fabienne R FR; Coppens, Michiel M; Gouw, Samantha C SC; Boyce, Sara S; Bagot, Catherine N CN; Beckers, Erik A M EAM; Brons, Paul P; Castaman, Giancarlo G; Eikenboom, Jeroen J; Jackson, Shannon S; Kruip, Marieke J H A MJHA; Leebeek, Frank W G FWG; Meijer, Karina K; Nieuwenhuizen, Laurens L; Pabinger, Ingrid I; Fijnvandraat, Karin K; ,
Publication Date: 2022-08

Variant appearance in text: FVIII: Arg1960Gln
PubMed Link: 36090159
Variant Present in the following documents:
  • Main text
  • RTH2-6-e12777.pdf
View BVdb publication page



A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.

Npj Genomic Medicine
Hu, Ping P; Tan, Jianxin J; Yu, Feng F; Shao, Binbin B; Zhang, Fang F; Zhang, Jingjing J; Lin, Yingchun Y; Tao, Tao T; Jiang, Lili L; Jiang, Zhengwen Z; Xu, Zhengfeng Z
Publication Date: 2022-01-25

Variant appearance in text: F8: 5879G>A
PubMed Link: 35079019
Variant Present in the following documents:
  • 41525_2021_280_MOESM1_ESM.pdf
View BVdb publication page



Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.

Molecular Therapy. Nucleic Acids
Villiger, Lukas L; Schmidheini, Lukas L; Mathis, Nicolas N; Rothgangl, Tanja T; Marquart, Kim K; Schwank, Gerald G
Publication Date: 2021-12-03

Variant appearance in text: F8: 5879G>A; Arg1960Gln
PubMed Link: 34631280
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
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: F8: R1960Q
PubMed Link: 31267011
Variant Present in the following documents:
  • 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Variable readthrough responsiveness of nonsense mutations in hemophilia A.

Haematologica
Martorell, Lluis L; Cortina, Vicente V; Parra, Rafael R; Barquinero, Jordi J; Vidal, Francisco F
Publication Date: 2020

Variant appearance in text: F8: R1960Q
PubMed Link: 31197069
Variant Present in the following documents:
  • Main text
  • 1050508.pdf
View BVdb publication page



Mutational Profiles of F8 and F9 in a Cohort of Haemophilia A and Haemophilia B Patients in the Multi-ethnic Malaysian Population.

Mediterranean Journal Of Hematology And Infectious Diseases
Zahari, Maimiza M; Sulaiman, Siti Aishah SA; Othman, Zulhabri Z; Ayob, Yasmin Y; Karim, Faraizah Abd FA; Jamal, Rahman R
Publication Date: 2018

Variant appearance in text: F8: 5879G>A; R1960Q
PubMed Link: 30210749
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of deep intronic individual variants in patients with hemophilia A by next-generation sequencing of the whole factor VIII gene.

Research And Practice In Thrombosis And Haemostasis
Inaba, Hiroshi H; Shinozawa, Keiko K; Amano, Kagehiro K; Fukutake, Katsuyuki K
Publication Date: 2017-10

Variant appearance in text: F8: 5879G>A; Arg1960Gln; rs28937294
PubMed Link: 30046696
Variant Present in the following documents:
  • Main text
  • RTH2-1-264.pdf
View BVdb publication page



Desmopressin in moderate hemophilia A patients: a treatment worth considering.

Haematologica
Loomans, Janneke I JI; Kruip, Marieke J H A MJHA; Carcao, Manuel M; Jackson, Shannon S; van Velzen, Alice S AS; Peters, Marjolein M; Santagostino, Elena E; Platokouki, Helen H; Beckers, Erik E; Voorberg, Jan J; van der Bom, Johanna G JG; Fijnvandraat, Karin K; ,
Publication Date: 2018-03

Variant appearance in text: FVIII: Arg1960Gln
PubMed Link: 29305412
Variant Present in the following documents:
  • 1030550.pdf
View BVdb publication page



Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.

Clinical And Applied Thrombosis/Hemostasis : Official Journal Of The International Academy Of Clinical And Applied Thrombosis/Hemostasis
Guo, Zhiping Z; Yang, Linhua L; Qin, Xiuyu X; Liu, Xiue X; Zhang, Yaofang Y
Publication Date: 2018-01

Variant appearance in text: FVIII: 5879G>A
PubMed Link: 28056528
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: F8: R1960Q; rs28937294
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: F8: R1960Q
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.

Plos One
Nair, Preethi S PS; Shetty, Shrimati D SD; Chandrakala, S S; Ghosh, Kanjaksha K
Publication Date: 2014

Variant appearance in text: FVIII: 5879G>A
PubMed Link: 24845853
Variant Present in the following documents:
  • Main text
  • pone.0097337.pdf
View BVdb publication page



Three novel F8 mutations in sporadic haemophilia A cases.

Springerplus
Hussain, Rashid R; Abid, Noman Bin NB; Hussain, Sajjad S; Shaukat, Zeeshan Z; Altaf, Mudassir M; Altaf, Sara S; Niazi, Gulzar G
Publication Date: 2012

Variant appearance in text: rs28937294
PubMed Link: 23961341
Variant Present in the following documents:
  • Main text
View BVdb publication page