SCN1A c.4001G>T ;(p.R1334M)

Variant ID: 2-166866230-C-A

NM_001165963.1(SCN1A):c.4001G>T;(p.R1334M)

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:

Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.

Plos One
Coll, Monica M; Striano, Pasquale P; Ferrer-Costa, Carles C; Campuzano, Oscar O; Matés, Jesús J; Del Olmo, Bernat B; Iglesias, Anna A; Pérez-Serra, Alexandra A; Mademont, Irene I; Picó, Ferran F; Oliva, Antonio A; Brugada, Ramon R
Publication Date: 2017

Variant appearance in text: SCN1A: 4001G>T; Arg1334Met
PubMed Link: 29261713
Variant Present in the following documents:
  • Main text
  • pone.0189618.pdf
View BVdb publication page