SCN1A c.5083G>C ;(p.V1695L)

Variant ID: 2-166848702-C-G

NM_001165963.1(SCN1A):c.5083G>C;(p.V1695L)

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:

Two Children with Early-Onset Strokes and Intractable Epilepsy, Both with CACNA1A Mutations.

Child Neurology Open
Bolte, Kristen N KN; Assaf, Melissa M; Zach, Tamara T; Peche, Shubhangi S
Publication Date: 2022

Variant appearance in text: SCN1A: 5083G>C
PubMed Link: 35497372
Variant Present in the following documents:
  • Main text
  • 10.1177_2329048X221094977.pdf
View BVdb publication page