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SCN1A c.3857G>A ;(p.W1286*)
Variant ID: 2-166868641-C-T
NM_001165963.1(
SCN1A
):c.3857G>A;(p.W1286*)
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:
Fatal Status Epilepticus in Dravet Syndrome.
Brain Sciences
De Liso, Paola P; Pironi, Virginia V; Mastrangelo, Massimo M; Battaglia, Domenica D; Craiu, Dana D; Trivisano, Marina M; Specchio, Nicola N; Nabbout, Rima R; Vigevano, Federico F
Publication Date: 2020-11-23
Variant appearance in text: SCN1A: W1286X
PubMed Link:
33238377
Variant Present in the following documents:
Main text
brainsci-10-00889.pdf
View BVdb publication page