TSC2 c.910T>C ;(p.W304R)

Variant ID: 16-2108809-T-C

NM_000548.3(TSC2):c.910T>C;(p.W304R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Brain Somatic Mutations in Epileptic Disorders.

Molecules And Cells
Koh, Hyun Yong HY; Lee, Jeong Ho JH
Publication Date: 2018-10-31

Variant appearance in text: TSC2: 910T>C
PubMed Link: 30352490
Variant Present in the following documents:
  • Main text
  • molce-41-10-881.pdf
View BVdb publication page



Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Molecular Autism
Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V
Publication Date: 2013-03-20

Variant appearance in text: TSC2: W304R
PubMed Link: 23514105
Variant Present in the following documents:
  • 2040-2392-4-5-S5.xls, sheet 1
View BVdb publication page