SCN1A c.3943C>G ;(p.L1315V)

Variant ID: 2-166866288-G-C

NM_001165963.1(SCN1A):c.3943C>G;(p.L1315V)

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:

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

Journal Of Medical Genetics
Trump, Natalie N; McTague, Amy A; Brittain, Helen H; Papandreou, Apostolos A; Meyer, Esther E; Ngoh, Adeline A; Palmer, Rodger R; Morrogh, Deborah D; Boustred, Christopher C; Hurst, Jane A JA; Jenkins, Lucy L; Kurian, Manju A MA; Scott, Richard H RH
Publication Date: 2016-05

Variant appearance in text: SCN1A: 3943C>G
PubMed Link: 26993267
Variant Present in the following documents:
  • Main text
  • jmedgenet-2015-103263.pdf
  • jmedgenet-2015-103263supp_tables.pdf
View BVdb publication page