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SCN1A c.5484A>T ;(p.L1828F)
Variant ID: 2-166848301-T-A
NM_001165963.1(
SCN1A
):c.5484A>T;(p.L1828F)
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:
Genomic and Transcriptomic Characterization of Relapsed SCLC Through Rapid Research Autopsy.
Jto Clinical And Research Reports
Chen, Hui-Zi HZ; Bonneville, Russell R; Paruchuri, Anoosha A; Reeser, Julie W JW; Wing, Michele R MR; Samorodnitsky, Eric E; Krook, Melanie A MA; Smith, Amy M AM; Dao, Thuy T; Miya, Jharna J; Wang, Walter W; Yu, Lianbo L; Freud, Aharon G AG; Allenby, Patricia P; Cole, Sharon S; Otterson, Gregory G; Shields, Peter P; Carbone, David P DP; Roychowdhury, Sameek S
Publication Date: 2021-04
Variant appearance in text: SCN1A: L1828F
PubMed Link:
34590014
Variant Present in the following documents:
mmc13.xlsx, sheet 1
mmc4.xlsx, sheet 5
mmc4.xlsx, sheet 4
View BVdb publication page