TSC2 c.1177G>T ;(p.E393*)

Variant ID: 16-2111929-G-T

NM_000548.3(TSC2):c.1177G>T;(p.E393*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The genomic landscape of tuberous sclerosis complex.

Nature Communications
Martin, Katie R KR; Zhou, Wanding W; Bowman, Megan J MJ; Shih, Juliann J; Au, Kit Sing KS; Dittenhafer-Reed, Kristin E KE; Sisson, Kellie A KA; Koeman, Julie J; Weisenberger, Daniel J DJ; Cottingham, Sandra L SL; DeRoos, Steven T ST; Devinsky, Orrin O; Winn, Mary E ME; Cherniack, Andrew D AD; Shen, Hui H; Northrup, Hope H; Krueger, Darcy A DA; MacKeigan, Jeffrey P JP
Publication Date: 2017-06-15

Variant appearance in text: TSC2: 1177G>T; Glu393Ter
PubMed Link: 28643795
Variant Present in the following documents:
  • ncomms15816-s3.xlsx, sheet 1
View BVdb publication page



Dichotomy of Genetic Abnormalities in PEComas With Therapeutic Implications.

The American Journal Of Surgical Pathology
Agaram, Narasimhan P NP; Sung, Yun-Shao YS; Zhang, Lei L; Chen, Chun-Liang CL; Chen, Hsiao-Wei HW; Singer, Samuel S; Dickson, Mark A MA; Berger, Michael F MF; Antonescu, Cristina R CR
Publication Date: 2015-06

Variant appearance in text: TSC2: E393*
PubMed Link: 25651471
Variant Present in the following documents:
  • Main text
View BVdb publication page