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SCN1A c.1087A>C ;(p.T363P)
Variant ID: 2-166904220-T-G
NM_001165963.1(
SCN1A
):c.1087A>C;(p.T363P)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance.
Membranes
Tarnovskaya, Svetlana I SI; Kostareva, Anna A AA; Zhorov, Boris S BS
Publication Date: 2021-08-07
Variant appearance in text: SCN1A: T363P
PubMed Link:
34436362
Variant Present in the following documents:
Main text
membranes-11-00599.pdf
View BVdb publication page
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Genome Research
Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S
Publication Date: 2017-10
Variant appearance in text: SCN1A: 1087A>C; Thr363Pro
PubMed Link:
28864458
Variant Present in the following documents:
supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1
View BVdb publication page