APC c.453del ;(p.E152Kfs*18)

Variant ID: 5-112111354-GA-G

NM_000038.5(APC):c.453del;(p.E152Kfs*18)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: APC: 453del; Glu152fs; rs863224820
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



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: 453del; Glu152fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: APC: 453delA; Glu152Lysfs
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: 453delA; Glu152fs
PubMed Link: 20223039
Variant Present in the following documents:
  • Main text
  • 1897-4287-3-3-95.pdf
View BVdb publication page