TSC2 c.4735G>A ;(p.G1579S)

Variant ID: 16-2136266-G-A

NM_000548.3(TSC2):c.4735G>A;(p.G1579S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Interstitial chromosomal deletion of the tuberous sclerosis complex 2 locus is a signature for radiation-associated renal tumors in Eker rats.

Cancer Science
Inoue, Tatsuya T; Kokubo, Toshiaki T; Daino, Kazuhiro K; Yanagihara, Hiromi H; Watanabe, Fumiko F; Tsuruoka, Chizuru C; Amasaki, Yoshiko Y; Morioka, Takamitsu T; Homma-Takeda, Shino S; Kobayashi, Toshiyuki T; Hino, Okio O; Shimada, Yoshiya Y; Kakinuma, Shizuko S
Publication Date: 2020-03

Variant appearance in text: TSC2: Gly1579Ser
PubMed Link: 31925975
Variant Present in the following documents:
  • Main text
  • CAS-111-840.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: G1579S
PubMed Link: 23514105
Variant Present in the following documents:
  • 2040-2392-4-5-S5.xls, sheet 1
View BVdb publication page



High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.

Plos One
Kelleher, Raymond J RJ; Geigenmüller, Ute U; Hovhannisyan, Hayk H; Trautman, Edwin E; Pinard, Robert R; Rathmell, Barbara B; Carpenter, Randall R; Margulies, David D
Publication Date: 2012

Variant appearance in text: TSC2: 4735G>A; G1579S
PubMed Link: 22558107
Variant Present in the following documents:
  • pone.0035003.s004.pdf
View BVdb publication page