SCN1A c.*1864T>A

Variant ID: 2-166845891-A-T

NM_001165963.1(SCN1A):c.*1864T>A

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:

Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.

Molecular Genetics & Genomic Medicine
Maksemous, Neven N; Roy, Bishakha B; Smith, Robert A RA; Griffiths, Lyn R LR
Publication Date: 2016-03

Variant appearance in text: rs150155252
PubMed Link: 27066515
Variant Present in the following documents:
  • Main text
  • MGG3-4-211.pdf
View BVdb publication page