SCN1A c.2867T>C ;(p.M956T)

Variant ID: 2-166894365-A-G

NM_001165963.1(SCN1A):c.2867T>C;(p.M956T)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Clonal dynamics of haematopoiesis across the human lifespan.

Nature
Mitchell, Emily E; Spencer Chapman, Michael M; Williams, Nicholas N; Dawson, Kevin J KJ; Mende, Nicole N; Calderbank, Emily F EF; Jung, Hyunchul H; Mitchell, Thomas T; Coorens, Tim H H THH; Spencer, David H DH; Machado, Heather H; Lee-Six, Henry H; Davies, Megan M; Hayler, Daniel D; Fabre, Margarete A MA; Mahbubani, Krishnaa K; Abascal, Federico F; Cagan, Alex A; Vassiliou, George S GS; Baxter, Joanna J; Martincorena, Inigo I; Stratton, Michael R MR; Kent, David G DG; Chatterjee, Krishna K; Parsy, Kourosh Saeb KS; Green, Anthony R AR; Nangalia, Jyoti J; Laurenti, Elisa E; Campbell, Peter J PJ
Publication Date: 2022-06

Variant appearance in text: SCN1A: M956T
PubMed Link: 35650442
Variant Present in the following documents:
  • 41586_2022_4786_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology
Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S
Publication Date: 2022-01-17

Variant appearance in text: SCN1A: M956T
PubMed Link: 35037686
Variant Present in the following documents:
  • awac006_Supplementary_Data.pdf
View BVdb publication page



Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Research
Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S
Publication Date: 2017-10

Variant appearance in text: SCN1A: 2867T>C; Met956Thr
PubMed Link: 28864458
Variant Present in the following documents:
  • supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: SCN1A: M956T
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Epilepsy with auditory features: A heterogeneous clinico-molecular disease.

Neurology. Genetics
Pippucci, Tommaso T; Licchetta, Laura L; Baldassari, Sara S; Palombo, Flavia F; Menghi, Veronica V; D'Aurizio, Romina R; Leta, Chiara C; Stipa, Carlotta C; Boero, Giovanni G; d'Orsi, Giuseppe G; Magi, Alberto A; Scheffer, Ingrid I; Seri, Marco M; Tinuper, Paolo P; Bisulli, Francesca F
Publication Date: 2015-06

Variant appearance in text: SCN1A: Met956Thr
PubMed Link: 27066544
Variant Present in the following documents:
  • Main text
  • NG2015000026.pdf
View BVdb publication page