TSC2 c.2407C>T ;(p.Q803*)

Variant ID: 16-2124252-C-T

NM_000548.3(TSC2):c.2407C>T;(p.Q803*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

The Journal Of Clinical Investigation
Klonowska, Katarzyna K; Grevelink, Joannes M JM; Giannikou, Krinio K; Ogorek, Barbara A BA; Herbert, Zachary T ZT; Thorner, Aaron R AR; Darling, Thomas N TN; Moss, Joel J; Kwiatkowski, David J DJ
Publication Date: 2022-05-16

Variant appearance in text: TSC2: 2407C>T; Gln803*
PubMed Link: 35358092
Variant Present in the following documents:
  • jci-132-155858-s186.xlsx, sheet 1
View BVdb publication page



Low-Dose Everolimus Maintenance Therapy for Renal Angiomyolipoma Associated With Tuberous Sclerosis Complex.

Frontiers In Medicine
Luo, Cong C; Ye, Wen-Rui WR; Zu, Xiong-Bin XB; Chen, Min-Feng MF; Qi, Lin L; Li, Yang-Le YL; Cai, Yi Y
Publication Date: 2021

Variant appearance in text: TSC2: 2407C>T; Gln803*
PubMed Link: 34901059
Variant Present in the following documents:
  • Main text
  • fmed-08-744050.pdf
View BVdb publication page