SCN1A c.3213del ;(p.D1072Ifs*8)

Variant ID: 2-166892773-CT-C

NM_001165963.1(SCN1A):c.3213del;(p.D1072Ifs*8)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


In-depth characterization of intratumoral heterogeneity in refractory B-cell non-Hodgkin lymphoma through the lens of a Research Autopsy Program.

Haematologica
Isaev, Keren K; Liu, Ting T; Bakhtiari, Mehran M; Tong, Kit K; Goswami, Rashmi R; Lam, Bernard B; Lungu, Ilinca I; Krzyzanowski, Paul M PM; Oza, Amit A; Dhani, Neesha N; Prica, Anca A; Crump, Michael M; Kridel, Robert R
Publication Date: 2022-06-23

Variant appearance in text: SCN1A: 3212delA
PubMed Link: 35734926
Variant Present in the following documents:
  • 2022_280900_ISAEV_TABS3_SUPPL.xlsx, sheet 1
View BVdb publication page



Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype.

Epilepsia Open
Ouss, Lisa L; Leunen, Dorothee D; Laschet, Jacques J; Chemaly, Nicole N; Barcia, Giulia G; Losito, Emma M EM; Aouidad, Aveline A; Barrault, Zoe Z; Desguerre, Isabelle I; Breuillard, Delphine D; Nabbout, Rima R
Publication Date: 2019-03

Variant appearance in text: SCN1A: 3213del
PubMed Link: 30868114
Variant Present in the following documents:
  • Main text
  • EPI4-4-40.pdf
View BVdb publication page