CLCN2 c.130G>C ;(p.G44R)

Variant ID: 3-184076853-C-G

NM_004366.5(CLCN2):c.130G>C;(p.G44R)

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:

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: CLCN2: G44R
PubMed Link: 28488083
Variant Present in the following documents:
  • Main text
View BVdb publication page