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FLNB c.7121G>A ;(p.R2374H)
Variant ID: 3-58148980-G-A
NM_001457.3(
FLNB
):c.7121G>A;(p.R2374H)
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:
Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis.
Journal Of Medical Genetics
Jiang, Heng H; Liang, Shulun S; He, Kai K; Hu, Jinghua J; Xu, Enjie E; Lin, Tao T; Meng, Yichen Y; Zhao, Jianquan J; Ma, Jun J; Gao, Rui R; Wang, Ce C; Yang, Fu F; Zhou, Xuhui X
Publication Date: 2020-06
Variant appearance in text: FLNB: R2374H; rs186952950
PubMed Link:
32381728
Variant Present in the following documents:
Main text
jmedgenet-2019-106411.pdf
View BVdb publication page
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05
Variant appearance in text: FLNB: R2374H
PubMed Link:
27377421
Variant Present in the following documents:
ncomms12072-s6.xlsx, sheet 1
View BVdb publication page