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F8 c.2404C>T ;(p.Q802*)
Variant ID: X-154159661-G-A
NM_000132.3(
F8
):c.2404C>T;(p.Q802*)
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:
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: 2404C>T; Gln802Ter
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: 2404C>T
PubMed Link:
28056528
Variant Present in the following documents:
Main text
View BVdb publication page