TSC2 c.4813C>T ;(p.Q1605*)

Variant ID: 16-2136344-C-T

NM_000548.3(TSC2):c.4813C>T;(p.Q1605*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: TSC2: Q1605*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.

Aging
Jiangyi, Wang W; Gang, Guo G; Guohai, Shi S; Dingwei, Ye Y
Publication Date: 2020-01-12

Variant appearance in text: TSC2: 4813C>T
PubMed Link: 31927531
Variant Present in the following documents:
  • aging-12-102654-s001..xlsx, sheet 1
View BVdb publication page



Antenatal screening and diagnosis of tuberous sclerosis complex by fetal echocardiography and targeted genomic sequencing.

Medicine
Gu, Xiaoyan X; Han, Ling L; Chen, Jian J; Wang, Jianbin J; Hao, Xiaoyan X; Zhang, Ye Y; Zhang, Jun J; Ge, Shuping S; He, Yihua Y
Publication Date: 2018-04

Variant appearance in text: TSC2: 4813C>T
PubMed Link: 29642139
Variant Present in the following documents:
  • Main text
  • medi-97-e0112.pdf
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: Q1605X
PubMed Link: 25651471
Variant Present in the following documents:
  • Main text
View BVdb publication page