SCN1A c.725A>G ;(p.Q242R)

Variant ID: 2-166908468-T-C

NM_001165963.1(SCN1A):c.725A>G;(p.Q242R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families.

Genes
Cornejo-Sanchez, Diana M DM; Acharya, Anushree A; Bharadwaj, Thashi T; Marin-Gomez, Lizeth L; Pereira-Gomez, Pilar P; Nouel-Saied, Liz M LM; University Of Washington Center For Mendelian Genomics, ; Nickerson, Deborah A DA; Bamshad, Michael J MJ; Mefford, Heather C HC; Schrauwen, Isabelle I; Carrizosa-Moog, Jaime J; Cornejo-Ochoa, William W; Pineda-Trujillo, Nicolas N; Leal, Suzanne M SM
Publication Date: 2022-04-25

Variant appearance in text: SCN1A: 725A>G
PubMed Link: 35627139
Variant Present in the following documents:
  • Main text
  • genes-13-00754.pdf
View BVdb publication page