TSC2 c.4737C>T ;(p.G1579=)

Variant ID: 16-2136268-C-T

NM_000548.3(TSC2):c.4737C>T;(p.G1579=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Patient-derived cells from recurrent tumors that model the evolution of IDH-mutant glioma.

Neuro-Oncology Advances
Jones, Lindsey E LE; Hilz, Stephanie S; Grimmer, Matthew R MR; Mazor, Tali T; Najac, Chloé C; Mukherjee, Joydeep J; McKinney, Andrew A; Chow, Tracy T; Pieper, Russell O RO; Ronen, Sabrina M SM; Chang, Susan M SM; Phillips, Joanna J JJ; Costello, Joseph F JF
Publication Date: 2020

Variant appearance in text: TSC2: G1579G
PubMed Link: 32904945
Variant Present in the following documents:
  • vdaa088_suppl_supplementary_tables.xlsx, sheet 2
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: 4737C>T; Gly1579Gly
PubMed Link: 31927531
Variant Present in the following documents:
  • Main text
  • aging-12-102654-s001..xlsx, sheet 1
  • aging-12-102654.pdf
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: TSC2: 4737C>T; G1579G
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page