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SCN1A c.2714C>A ;(p.A905D)
Variant ID: 2-166894518-G-T
NM_001165963.1(
SCN1A
):c.2714C>A;(p.A905D)
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:
Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome.
Medicine
Jiang, TieJia T; Shen, Yaping Y; Chen, Huai H; Yuan, Zhefeng Z; Mao, Shanshan S; Gao, Feng F
Publication Date: 2018-12
Variant appearance in text: SCN1A: 2714C>A
PubMed Link:
30558019
Variant Present in the following documents:
Main text
medi-97-e13565.pdf
View BVdb publication page