TSC2 c.3178T>C ;(p.W1060R)

Variant ID: 16-2129323-T-C

NM_000548.3(TSC2):c.3178T>C;(p.W1060R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: W1060R
PubMed Link: 23514105
Variant Present in the following documents:
  • 2040-2392-4-5-S5.xls, sheet 1
View BVdb publication page