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SCN1A c.3007del ;(p.T1003Lfs*7)
Variant ID: 2-166892980-GT-G
NM_001165963.1(
SCN1A
):c.3007del;(p.T1003Lfs*7)
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:
Dravet syndrome in South African infants: Tools for an early diagnosis.
Seizure
Esterhuizen, Alina I AI; Mefford, Heather C HC; Ramesar, Rajkumar S RS; Wang, Shuyu S; Carvill, Gemma L GL; Wilmshurst, Jo M JM
Publication Date: 2018-11
Variant appearance in text: SCN1A: 3007delA
PubMed Link:
30321769
Variant Present in the following documents:
Main text
View BVdb publication page