SCN1A c.1243del ;(p.I415*)

Variant ID: 2-166903413-AT-A

NM_001165963.1(SCN1A):c.1243del;(p.I415*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Frontiers In Neurology
Gonsales, Marina C MC; Montenegro, Maria Augusta MA; Preto, Paula P; Guerreiro, Marilisa M MM; Coan, Ana Carolina AC; Quast, Monica Paiva MP; Carvalho, Benilton S BS; Lopes-Cendes, Iscia I
Publication Date: 2019

Variant appearance in text: SCN1A: 1242delA
PubMed Link: 31001185
Variant Present in the following documents:
  • Main text
  • fneur-10-00289.pdf
View BVdb publication page