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F8 c.103T>A ;(p.Y35N)
Variant ID: X-154250725-A-T
NM_000132.3(
F8
):c.103T>A;(p.Y35N)
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:
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: Y35N
PubMed Link:
31267011
Variant Present in the following documents:
41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
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: 103T>A
PubMed Link:
28056528
Variant Present in the following documents:
Main text
View BVdb publication page