SCN1A c.3218T>C ;(p.L1073P)

Variant ID: 2-166892769-A-G

NM_001165963.1(SCN1A):c.3218T>C;(p.L1073P)

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:

Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype.

Pharmacogenomics And Personalized Medicine
Fonseca, Dora Janeth DJ; Morel, Adrien A; Llinás-Caballero, Kevin K; Bolívar-Salazar, David D; Laissue, Paul P
Publication Date: 2021

Variant appearance in text: SCN1A: 3218T>C
PubMed Link: 33688237
Variant Present in the following documents:
  • Main text
View BVdb publication page