SCN1A c.5341T>G ;(p.Y1781D)

Variant ID: 2-166848444-A-C

NM_001165963.1(SCN1A):c.5341T>G;(p.Y1781D)

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:

Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.

Molecular Genetics & Genomic Medicine
Lee, Jiwon J; Lee, Chung C; Ki, Chang-Seok CS; Lee, Jeehun J
Publication Date: 2020-09

Variant appearance in text: SCN1A: 5341T>G
PubMed Link: 32613771
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1376.pdf
View BVdb publication page