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.




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