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SCN1A c.3796G>T ;(p.E1266*)
Variant ID: 2-166868702-C-A
NM_001165963.1(
SCN1A
):c.3796G>T;(p.E1266*)
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:
Late diagnoses of Dravet syndrome: How many individuals are we missing?
Epilepsia Open
Silvennoinen, Katri K; Puvirajasinghe, Clinda C; Hudgell, Kirsty K; Sidhu, Meneka K MK; Martins Custodio, Helena H; , ; Jones, Wendy D WD; Balestrini, Simona S; Sisodiya, Sanjay M SM
Publication Date: 2021-12
Variant appearance in text: SCN1A: 3796G>T; Glu1266Ter
PubMed Link:
34268891
Variant Present in the following documents:
Main text
EPI4-6-770.pdf
View BVdb publication page
Late diagnoses of Dravet syndrome: How many individuals are we missing?
Epilepsia Open
Silvennoinen, Katri K; Puvirajasinghe, Clinda C; Hudgell, Kirsty K; Sidhu, Meneka K MK; Martins Custodio, Helena H; , ; Jones, Wendy D WD; Balestrini, Simona S; Sisodiya, Sanjay M SM
Publication Date: 2021-12
Variant appearance in text: SCN1A: 3796G>T; Glu1266Ter
PubMed Link:
34268891
Variant Present in the following documents:
Main text
EPI4-6-770.pdf
View BVdb publication page