SCN1A c.2473_2476del ;(p.Y825Ifs*15)

Variant ID: 2-166896045-TAGTA-T

NM_001165963.1(SCN1A):c.2473_2476del;(p.Y825Ifs*15)

This variant was identified in 1 publication

View GRCh38 version.




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: 2473_2476delTACT
PubMed Link: 22140375
Variant Present in the following documents:
  • Main text
View BVdb publication page