TSC2 c.3713C>T ;(p.A1238V)

Variant ID: 16-2131698-C-T

NM_000548.3(TSC2):c.3713C>T;(p.A1238V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: TSC2: 3713C>T
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 1
View BVdb publication page



Decoding of novel missense TSC2 gene variants using in-silico methods.

Bmc Medical Genetics
Sudarshan, Shruthi S; Kumar, Manoj M; Kaur, Punit P; Kumar, Atin A; G, Sethuraman S; Sapra, Savita S; Gulati, Sheffali S; Gupta, Neerja N; Kabra, Madhulika M; Roy Chowdhury, Madhumita M
Publication Date: 2019-10-26

Variant appearance in text: TSC2: Ala1238Val
PubMed Link: 31655562
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_891.pdf
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: TSC2: 3713C>T; Pro1238Leu
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 2
View BVdb publication page