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SCN1A c.5008_5009delinsAC ;(p.L1670T)
Variant ID: 2-166848776-AA-GT
NM_001165963.1(
SCN1A
):c.5008_5009delinsAC;(p.L1670T)
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:
SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.
Frontiers In Neurology
Ding, Jiangwei J; Li, Xinxiao X; Tian, Haiyan H; Wang, Lei L; Guo, Baorui B; Wang, Yangyang Y; Li, Wenchao W; Wang, Feng F; Sun, Tao T
Publication Date: 2021
Variant appearance in text: SCN1A: L1670T
PubMed Link:
35002916
Variant Present in the following documents:
Main text
View BVdb publication page