SCN1A c.5357T>C ;(p.L1786P)

Variant ID: 2-166848428-A-G

NM_001165963.1(SCN1A):c.5357T>C;(p.L1786P)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A single-center, retrospective analysis of genotype-phenotype correlations in children with Dravet syndrome.

Seizure
Gertler, Tracy S TS; Calhoun, Jeffrey J; Laux, Linda L
Publication Date: 2020-02

Variant appearance in text: SCN1A: Leu1786Pro
PubMed Link: 31864146
Variant Present in the following documents:
  • Main text
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