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SCN1A c.647G>C ;(p.R216T)
Variant ID: 2-166909409-C-G
NM_001165963.1(
SCN1A
):c.647G>C;(p.R216T)
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:
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.
European Journal Of Human Genetics : Ejhg
Della Mina, Erika E; Ciccone, Roberto R; Brustia, Francesca F; Bayindir, Baran B; Limongelli, Ivan I; Vetro, Annalisa A; Iascone, Maria M; Pezzoli, Laura L; Bellazzi, Riccardo R; Perotti, Gianfranco G; De Giorgis, Valentina V; Lunghi, Simona S; Coppola, Giangennaro G; Orcesi, Simona S; Merli, Pietro P; Savasta, Salvatore S; Veggiotti, Pierangelo P; Zuffardi, Orsetta O
Publication Date: 2015-03
Variant appearance in text: SCN1A: 647G>C
PubMed Link:
24848745
Variant Present in the following documents:
Main text
View BVdb publication page