SCN1A c.760_763del ;(p.T254Cfs*4)

Variant ID: 2-166908429-ACAGT-A

NM_001165963.1(SCN1A):c.760_763del;(p.T254Cfs*4)

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:

Severe Myoclonic Epilepsy in Infancy - Adult Phenotype with Bradykinesia, Hypomimia, and Perseverative Behavior: Report of Five Cases.

Molecular Syndromology
Martin, P P; Rautenstrauβ, B B; Abicht, A A; Fahrbach, J J; Koster, S S
Publication Date: 2010

Variant appearance in text: SCN1A: 760_763delACTG
PubMed Link: 22140375
Variant Present in the following documents:
  • Main text
View BVdb publication page