SCN1A c.5260G>C ;(p.G1754R)

Variant ID: 2-166848525-C-G

NM_001165963.1(SCN1A):c.5260G>C;(p.G1754R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies.

Genes
Leduc-Pessah, Heather H; White-Brown, Alexandre A; Hartley, Taila T; Pohl, Daniela D; Dyment, David A DA
Publication Date: 2022-05-13

Variant appearance in text: SCN1A: 5260G>C; Gly1754Arg
PubMed Link: 35627257
Variant Present in the following documents:
  • Main text
  • genes-13-00872.pdf
View BVdb publication page