APC c.3149del ;(p.A1050Efs*6)

Variant ID: 5-112174440-GC-G

NM_000038.5(APC):c.3149del;(p.A1050Efs*6)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: APC: 3149del; Ala1050fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature.

Familial Cancer
Aydemirli, M D MD; van der Tuin, K K; Hes, F J FJ; van den Ouweland, A M W AMW; van Wezel, T T; Kapiteijn, E E; Morreau, H H
Publication Date: 2020-01

Variant appearance in text: APC: 3149delC; Ala1050Glufs*6
PubMed Link: 31598872
Variant Present in the following documents:
  • Main text
  • 10689_2019_Article_146.pdf
View BVdb publication page



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: 3149delC; Ala1050Glufs*6
PubMed Link: 28127413
Variant Present in the following documents:
  • Main text
  • 13053_2017_Article_63.pdf
View BVdb publication page



The Italian National External quality assessment program in molecular genetic testing: results of the VII round (2010-2011).

Biomed Research International
Censi, F F; Tosto, F F; Floridia, G G; Marra, M M; Salvatore, M M; Baffico, A M AM; Grasso, M M; Melis, M A MA; Pelo, E E; Radice, P P; Ravani, A A; Rosatelli, C C; Resta, N N; Russo, S S; Seia, M M; Varesco, L L; Falbo, V V; Taruscio, D D
Publication Date: 2013

Variant appearance in text: APC: 3149delC
PubMed Link: 23484150
Variant Present in the following documents:
  • Main text
  • BMRI2013-739010.pdf
View BVdb publication page



Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Hereditary Cancer In Clinical Practice
Friedl, Waltraut W; Aretz, Stefan S
Publication Date: 2005-09-15

Variant appearance in text: APC: 3149delC; Ala1050fs
PubMed Link: 20223039
Variant Present in the following documents:
  • Main text
  • 1897-4287-3-3-95.pdf
View BVdb publication page