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FLNB c.2482C>G ;(p.Q828E)
Variant ID: 3-58095895-C-G
NM_001457.3(
FLNB
):c.2482C>G;(p.Q828E)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome.
Molecular Genetics & Genomic Medicine
Liu, Jing J; Lin, Pengsiyuan P; Pang, Jialun J; Jia, Zhengjun Z; Peng, Ying Y; Xi, Hui H; Wu, Lingqian L; Li, Zhuo Z; Wang, Hua H
Publication Date: 2020-08
Variant appearance in text: FLNB: 2482C>G; Q828E
PubMed Link:
32543076
Variant Present in the following documents:
Main text
MGG3-8-e1313.pdf
View BVdb publication page