TSC2 c.2167_2168del ;(p.I723Lfs*38)

Variant ID: 16-2122311-CAT-C

NM_000548.3(TSC2):c.2167_2168del;(p.I723Lfs*38)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Nassar, Amin H AH; Abou Alaiwi, Sarah S; AlDubayan, Saud H SH; Moore, Nicholas N; Mouw, Kent W KW; Kwiatkowski, David J DJ; Choueiri, Toni K TK; Curran, Catherine C; Berchuck, Jacob E JE; Harshman, Lauren C LC; Nuzzo, Pier V PV; Chanza, Nieves Martinez NM; Van Allen, Eliezer E; Esplin, Edward D ED; Yang, Shan S; Callis, Thomas T; Garber, Judy E JE; Rana, Huma Q HQ; Sonpavde, Guru G
Publication Date: 2020-04

Variant appearance in text: TSC2: 2167_2168delAT
PubMed Link: 31844177
Variant Present in the following documents:
  • 41436_2019_720_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.

Oncotarget
Tedaldi, Gianluca G; Tebaldi, Michela M; Zampiga, Valentina V; Danesi, Rita R; Arcangeli, Valentina V; Ravegnani, Mila M; Cangini, Ilaria I; Pirini, Francesca F; Petracci, Elisabetta E; Rocca, Andrea A; Falcini, Fabio F; Amadori, Dino D; Calistri, Daniele D
Publication Date: 2017-07-18

Variant appearance in text: TSC2: 2167_2168del
PubMed Link: 28423363
Variant Present in the following documents:
  • Main text
View BVdb publication page