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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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