TSC1 c.121C>A ;(p.L41I)

Variant ID: 9-135802677-G-T

NM_000368.4(TSC1):c.121C>A;(p.L41I)

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: TSC1: L41I
PubMed Link: 23514105
Variant Present in the following documents:
  • 2040-2392-4-5-S5.xls, sheet 1
View BVdb publication page