APC c.1219del ;(p.L407Ffs*47)

Variant ID: 5-112154946-TC-T

NM_000038.5(APC):c.1219del;(p.L407Ffs*47)

This variant was identified in 2 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: 1219del; Leu407fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer.

Journal Of Cancer
Liu, Qiang Q; Tan, Yue-Qiu YQ
Publication Date: 2019

Variant appearance in text: APC: 1219delC
PubMed Link: 30719162
Variant Present in the following documents:
  • Main text
View BVdb publication page