SCN1A c.140del ;(p.N47Mfs*45)

Variant ID: 2-166929991-AT-A

NM_001165963.1(SCN1A):c.140del;(p.N47Mfs*45)

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:

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Stosser, Mary Beth MB; Lindy, Amanda S AS; Butler, Elizabeth E; Retterer, Kyle K; Piccirillo-Stosser, Caitlin M CM; Richard, Gabriele G; McKnight, Dianalee A DA
Publication Date: 2018-04

Variant appearance in text: SCN1A: 140delA
PubMed Link: 28837158
Variant Present in the following documents:
  • Main text
  • gim2017114a.pdf
View BVdb publication page