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SCN1A c.2435C>T ;(p.T812I)
Variant ID: 2-166896087-G-A
NM_001165963.1(
SCN1A
):c.2435C>T;(p.T812I)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
Journal Of Neurology, Neurosurgery, And Psychiatry
Balestrini, Simona S; Chiarello, Daniela D; Gogou, Maria M; Silvennoinen, Katri K; Puvirajasinghe, Clinda C; Jones, Wendy D WD; Reif, Philipp P; Klein, Karl Martin KM; Rosenow, Felix F; Weber, Yvonne G YG; Lerche, Holger H; Schubert-Bast, Susanne S; Borggraefe, Ingo I; Coppola, Antonietta A; Troisi, Serena S; Møller, Rikke S RS; Riva, Antonella A; Striano, Pasquale P; Zara, Federico F; Hemingway, Cheryl C; Marini, Carla C; Rosati, Anna A; Mei, Davide D; Montomoli, Martino M; Guerrini, Renzo R; Cross, J Helen JH; Sisodiya, Sanjay M SM
Publication Date: 2021-10
Variant appearance in text: SCN1A: 2435C>T; Thr812Ile
PubMed Link:
33903184
Variant Present in the following documents:
Main text
View BVdb publication page
Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.
Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06
Variant appearance in text: Nav1.1: T812I
PubMed Link:
28150151
Variant Present in the following documents:
Main text
13238_2017_Article_372.pdf
View BVdb publication page
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16
Variant appearance in text: SCN1A: T812I
PubMed Link:
27527004
Variant Present in the following documents:
srep31321-s4.xls, sheet 1
View BVdb publication page