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SCN1A c.5596G>A ;(p.D1866N)
Variant ID: 2-166848189-C-T
NM_001165963.1(
SCN1A
):c.5596G>A;(p.D1866N)
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:
Large-scale structural alteration of brain in epileptic children with SCN1A mutation.
Neuroimage. Clinical
Lee, Yun-Jeong YJ; Yum, Mi-Sun MS; Kim, Min-Jee MJ; Shim, Woo-Hyun WH; Yoon, Hee Mang HM; Yoo, Il Han IH; Lee, Jiwon J; Lim, Byung Chan BC; Kim, Ki Joong KJ; Ko, Tae-Sung TS
Publication Date: 2017
Variant appearance in text: SCN1A: Asp1866Asn
PubMed Link:
28664031
Variant Present in the following documents:
Main text
View BVdb publication page