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SCN1A c.3805_3807del ;(p.L1269del)
Variant ID: 2-166868691-TTAG-T
NM_001165963.1(
SCN1A
):c.3805_3807del;(p.L1269del)
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:
A single-center, retrospective analysis of genotype-phenotype correlations in children with Dravet syndrome.
Seizure
Gertler, Tracy S TS; Calhoun, Jeffrey J; Laux, Linda L
Publication Date: 2020-02
Variant appearance in text: SCN1A: Leu1269del
PubMed Link:
31864146
Variant Present in the following documents:
Main text
View BVdb publication page