TSC2 c.1597A>C ;(p.K533Q)

Variant ID: 16-2114426-A-C

NM_000548.3(TSC2):c.1597A>C;(p.K533Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.

Brain Sciences
Schepici, Giovanni G; Cavalli, Eugenio E; Bramanti, Placido P; Mazzon, Emanuela E
Publication Date: 2019-10-03

Variant appearance in text: TSC2: Lys533Gln
PubMed Link: 31623367
Variant Present in the following documents:
  • Main text
  • brainsci-09-00265.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: K533Q
PubMed Link: 23514105
Variant Present in the following documents:
  • Main text
  • 2040-2392-4-5.pdf
View BVdb publication page