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SCN1A c.1198A>C ;(p.M400L)
Variant ID: 2-166903459-T-G
NM_001165963.1(
SCN1A
):c.1198A>C;(p.M400L)
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:
Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.
Frontiers In Molecular Neuroscience
Jiang, Tiejia T; Gao, Jia J; Jiang, Lihua L; Xu, Lu L; Zhao, Congying C; Su, Xiaojun X; Shen, Yaping Y; Gu, Weiyue W; Kong, Xiaohong X; Yang, Ying Y; Gao, Feng F
Publication Date: 2021
Variant appearance in text: SCN1A: 1198A>C; M400L
PubMed Link:
34489640
Variant Present in the following documents:
Main text
fnmol-14-699574.pdf
View BVdb publication page