SCN1A c.3034del ;(p.L1012Sfs*12)

Variant ID: 2-166892953-AG-A

NM_001165963.1(SCN1A):c.3034del;(p.L1012Sfs*12)

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:

Incidence of Dravet Syndrome in a US Population.

Pediatrics
Wu, Yvonne W YW; Sullivan, Joseph J; McDaniel, Sharon S SS; Meisler, Miriam H MH; Walsh, Eileen M EM; Li, Sherian Xu SX; Kuzniewicz, Michael W MW
Publication Date: 2015-11

Variant appearance in text: SCN1A: 3034del
PubMed Link: 26438699
Variant Present in the following documents:
  • Main text
View BVdb publication page