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CHRNA4 c.823A>T ;(p.I275F)
Variant ID: 20-61981940-T-A
NM_000744.6(
CHRNA4
):c.823A>T;(p.I275F)
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:
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Neurology. Genetics
Bennett, Caitlin A CA; Petrovski, Slavé S; Oliver, Karen L KL; Berkovic, Samuel F SF
Publication Date: 2017-08
Variant appearance in text: CHRNA4: 823A>T; I275F
PubMed Link:
28717674
Variant Present in the following documents:
supp_3.4.e163_Table_e-1.xlsx, sheet 1
View BVdb publication page
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Neuroscience Bulletin
Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP
Publication Date: 2017-08
Variant appearance in text: CHRNA4: I275F
PubMed Link:
28488083
Variant Present in the following documents:
Main text
View BVdb publication page