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SCN1A c.846del ;(p.T283Pfs*10)
Variant ID: 2-166908346-TG-T
NM_001165963.1(
SCN1A
):c.846del;(p.T283Pfs*10)
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:
Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.
Molecular Genetics & Genomic Medicine
Lee, Jiwon J; Lee, Chung C; Ki, Chang-Seok CS; Lee, Jeehun J
Publication Date: 2020-09
Variant appearance in text: SCN1A: 846del
PubMed Link:
32613771
Variant Present in the following documents:
Main text
MGG3-8-e1376.pdf
View BVdb publication page