APC c.4097dup ;(p.Q1367Sfs*8)

Variant ID: 5-112175387-G-GC

NM_000038.5(APC):c.4097dup;(p.Q1367Sfs*8)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Hereditary Cancer In Clinical Practice
Cruz-Correa, Marcia M; Pérez-Mayoral, Julyann J; Dutil, Julie J; Echenique, Miguel M; Mosquera, Rafael R; Rivera-Román, Keila K; Umpierre, Sharee S; Rodriguez-Quilichini, Segundo S; Gonzalez-Pons, Maria M; Olivera, Myrta I MI; Pardo, Sherly S; ,
Publication Date: 2017

Variant appearance in text: APC: 4097dupC; Gln1367Serfs*8
PubMed Link: 28127413
Variant Present in the following documents:
  • Main text
  • 13053_2017_Article_63.pdf
View BVdb publication page



Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.

Orphanet Journal Of Rare Diseases
Torrezan, Giovana Tardin GT; da Silva, Felipe Cavalcanti Carneiro FC; Santos, Erika Maria Monteiro EM; Krepischi, Ana Cristina Victorino AC; Achatz, Maria Isabel Waddington MI; Aguiar, Samuel S; Rossi, Benedito Mauro BM; Carraro, Dirce Maria DM
Publication Date: 2013-04-05

Variant appearance in text: APC: 4097dupC; Gln1367Serfs*8
PubMed Link: 23561487
Variant Present in the following documents:
  • Main text
  • 1750-1172-8-54.pdf
View BVdb publication page