F8 c.1990C>T ;(p.Q664*)

Variant ID: X-154176096-G-A

NM_000132.3(F8):c.1990C>T;(p.Q664*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Publication Date: 2022-09-17

Variant appearance in text: F8: 1990C>T
PubMed Link: 36124685
Variant Present in the following documents:
  • noac220_suppl_supplementary_table_s3.xlsx, sheet 1
View BVdb publication page



Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia
Feng, Yin Y; Li, Qianqian Q; Shi, Panlai P; Liu, Ning N; Kong, Xiangdong X; Guo, Ruixia R
Publication Date: 2021-01

Variant appearance in text: F8: 1990C>T; Gln664Ter
PubMed Link: 33245802
Variant Present in the following documents:
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: 1990C>T
PubMed Link: 28056528
Variant Present in the following documents:
  • Main text
View BVdb publication page