CACNA1H c.2947G>A ;(p.G983S)

Variant ID: 16-1257314-G-A

NM_021098.2(CACNA1H):c.2947G>A;(p.G983S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic T-type calcium channelopathies.

Journal Of Medical Genetics
Weiss, Norbert N; Zamponi, Gerald W GW
Publication Date: 2020-01

Variant appearance in text: CACNA1H: G983S
PubMed Link: 31217264
Variant Present in the following documents:
  • Main text
  • jmedgenet-2019-106163.pdf
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: CACNA1H: G983S
PubMed Link: 28488083
Variant Present in the following documents:
  • Main text
View BVdb publication page