TSC2 c.2690T>C ;(p.F897S)

Variant ID: 16-2126119-T-C

NM_000548.3(TSC2):c.2690T>C;(p.F897S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: TSC2: 2690T>C; Phe897Ser
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
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: TSC2: Phe897Ser
PubMed Link: 32555378
Variant Present in the following documents:
  • Main text
  • 41598_2020_66588_MOESM1_ESM.pdf
  • 41598_2020_Article_66588.pdf
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: TSC2: 2690T>C; F897S
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
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: F897S
PubMed Link: 23514105
Variant Present in the following documents:
  • 2040-2392-4-5-S5.xls, sheet 1
View BVdb publication page