SCN1A c.1732A>T ;(p.R578*)

Variant ID: 2-166900490-T-A

NM_001165963.1(SCN1A):c.1732A>T;(p.R578*)

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:

Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.

Pharmaceuticals (Basel, Switzerland)
Michorowska, Sylwia S
Publication Date: 2021-08-09

Variant appearance in text: SCN1A: R578X
PubMed Link: 34451881
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-14-00785.pdf
View BVdb publication page