TSC2 c.4905C>A ;(p.C1635*)

Variant ID: 16-2136788-C-A

NM_000548.3(TSC2):c.4905C>A;(p.C1635*)

This variant was identified in 2 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: 4905C>A
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 2
View BVdb publication page



Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.

Plos Genetics
Giannikou, Krinio K; Malinowska, Izabela A IA; Pugh, Trevor J TJ; Yan, Rachel R; Tseng, Yuen-Yi YY; Oh, Coyin C; Kim, Jaegil J; Tyburczy, Magdalena E ME; Chekaluk, Yvonne Y; Liu, Yang Y; Alesi, Nicola N; Finlay, Geraldine A GA; Wu, Chin-Lee CL; Signoretti, Sabina S; Meyerson, Matthew M; Getz, Gad G; Boehm, Jesse S JS; Henske, Elizabeth P EP; Kwiatkowski, David J DJ
Publication Date: 2016-08

Variant appearance in text: TSC2: 4905C>A
PubMed Link: 27494029
Variant Present in the following documents:
  • Main text
  • pgen.1006242.pdf
View BVdb publication page