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FLNB c.4724C>T ;(p.T1575M)
Variant ID: 3-58121758-C-T
NM_001457.3(
FLNB
):c.4724C>T;(p.T1575M)
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:
Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.
Computational And Structural Biotechnology Journal
Zu, Bailing B; Zhang, Xiaoqing X; Xu, Yunlan Y; Xiang, Ying Y; Wang, Zhigang Z; Cai, Haiqing H; Wang, Bo B; You, Guoling G; Fu, Qihua Q
Publication Date: 2021
Variant appearance in text: rs776237096
PubMed Link:
34194672
Variant Present in the following documents:
mmc1.xlsx, sheet 4
View BVdb publication page
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: T1575M
PubMed Link:
32381728
Variant Present in the following documents:
Main text
jmedgenet-2019-106411.pdf
View BVdb publication page