SCN1A c.2607G>T ;(p.L869F)

Variant ID: 2-166894625-C-A

NM_001165963.1(SCN1A):c.2607G>T;(p.L869F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance.

Membranes
Tarnovskaya, Svetlana I SI; Kostareva, Anna A AA; Zhorov, Boris S BS
Publication Date: 2021-08-07

Variant appearance in text: SCN1A: L869F
PubMed Link: 34436362
Variant Present in the following documents:
  • Main text
  • membranes-11-00599.pdf
View BVdb publication page



Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06

Variant appearance in text: Nav1.1: L869F
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
View BVdb publication page