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SCN1A c.2732_2733delinsAA ;(p.L911Q)
Variant ID: 2-166894499-GA-TT
NM_001165963.1(
SCN1A
):c.2732_2733delinsAA;(p.L911Q)
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:
Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases.
Frontiers In Molecular Neuroscience
Chen, Chunhong C; Fang, Fang F; Wang, Xu X; Lv, Junlan J; Wang, Xiaohui X; Jin, Hong H
Publication Date: 2022
Variant appearance in text: SMEI: 2732_2733delinsAA
PubMed Link:
35571373
Variant Present in the following documents:
Main text
fnmol-15-821012.pdf
View BVdb publication page