SCN1A c.4449del ;(p.I1483Mfs*18)

Variant ID: 2-166854575-CT-C

NM_001165963.1(SCN1A):c.4449del;(p.I1483Mfs*18)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Parental Mosaicism in "De Novo" Epileptic Encephalopathies.

The New England Journal Of Medicine
Myers, Candace T CT; Hollingsworth, Georgina G; Muir, Alison M AM; Schneider, Amy L AL; Thuesmunn, Zoe Z; Knupp, Allison A; King, Chontelle C; Lacroix, Amy A; Mehaffey, Michele G MG; Berkovic, Samuel F SF; Carvill, Gemma L GL; Sadleir, Lynette G LG; Scheffer, Ingrid E IE; Mefford, Heather C HC
Publication Date: 2018-04-26

Variant appearance in text: SCN1A: I1483Mfs
PubMed Link: 29694806
Variant Present in the following documents:
  • Main text
View BVdb publication page