TSC2 c.3485C>T ;(p.P1162L)

Variant ID: 16-2130253-C-T

NM_000548.3(TSC2):c.3485C>T;(p.P1162L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.

Cold Spring Harbor Molecular Case Studies
Suarez-Kelly, Lorena P LP; Akagi, Keiko K; Reeser, Julie W JW; Samorodnitsky, Eric E; Reeder, Matthew M; Smith, Amy A; Roychowdhury, Sameek S; Symer, David E DE; Carson, William E WE
Publication Date: 2018-04

Variant appearance in text: TSC2: 3485C>T; Pro1162Leu; rs778069675
PubMed Link: 29449315
Variant Present in the following documents:
  • Main text
  • MCS002352Sua.pdf
  • supp_mcs.a002352_Supplemental_Table_4.xls, sheet 1
View BVdb publication page