TSC1 c.363+1G>A

Variant ID: 9-135800973-C-T

NM_000368.4(TSC1):c.363+1G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Adib, Elio E; Klonowska, Katarzyna K; Giannikou, Krinio K; Do, Khanh T KT; Pruitt-Thompson, Solida S; Bhushan, Ketki K; Milstein, Matthew I MI; Hedglin, Jennifer J; Kargus, Katherine E KE; Sholl, Lynette M LM; Tsuji, Junko J; Hyman, David M DM; Sisk, Anne A; Shapiro, Geoffrey I GI; Vargas, Hebert A HA; Harding, James J JJ; Voss, Martin H MH; Iyer, Gopa G; Kwiatkowski, David J DJ
Publication Date: 2021-07-15

Variant appearance in text: TSC1: 363+1G>A
PubMed Link: 33727259
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Scientific Reports
Rosengren, Thomas T; Nanhoe, Santoesha S; de Almeida, Luis Gustavo Dufner LGD; Schönewolf-Greulich, Bitten B; Larsen, Lasse Jonsgaard LJ; Hey, Caroline Amalie Brunbjerg CAB; Dunø, Morten M; Ek, Jakob J; Risom, Lotte L; Nellist, Mark M; Møller, Lisbeth Birk LB
Publication Date: 2020-06-18

Variant appearance in text: TSC1: 363+1G>A
PubMed Link: 32555378
Variant Present in the following documents:
  • 41598_2020_66588_MOESM1_ESM.pdf
View BVdb publication page



Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid.

Nature
Miller, Alexandra M AM; Shah, Ronak H RH; Pentsova, Elena I EI; Pourmaleki, Maryam M; Briggs, Samuel S; Distefano, Natalie N; Zheng, Youyun Y; Skakodub, Anna A; Mehta, Smrutiben A SA; Campos, Carl C; Hsieh, Wan-Ying WY; Selcuklu, S Duygu SD; Ling, Lilan L; Meng, Fanli F; Jing, Xiaohong X; Samoila, Aliaksandra A; Bale, Tejus A TA; Tsui, Dana W Y DWY; Grommes, Christian C; Viale, Agnes A; Souweidane, Mark M MM; Tabar, Viviane V; Brennan, Cameron W CW; Reiner, Anne S AS; Rosenblum, Marc M; Panageas, Katherine S KS; DeAngelis, Lisa M LM; Young, Robert J RJ; Berger, Michael F MF; Mellinghoff, Ingo K IK
Publication Date: 2019-01

Variant appearance in text: TSC1: 363+1G>A
PubMed Link: 30675060
Variant Present in the following documents:
  • NIHMS1516901-supplement-Sup_Table_5.xlsx, sheet 1
View BVdb publication page