APC c.531+5G>C

Variant ID: 5-112111439-G-C

NM_000038.5(APC):c.531+5G>C

This variant was identified in 4 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: 531+5G>C
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Advances In Bioinformatics
Tang, Rongying R; Prosser, Debra O DO; Love, Donald R DR
Publication Date: 2016

Variant appearance in text: APC: 531+5G>C
PubMed Link: 27313609
Variant Present in the following documents:
  • 5614058.f1.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: 531+5G>C
PubMed Link: 20223039
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.

Bmc Medical Genetics
Stekrova, Jitka J; Sulova, Martina M; Kebrdlova, Vera V; Zidkova, Katerina K; Kotlas, Jaroslav J; Ilencikova, Denisa D; Vesela, Kamila K; Kohoutova, Milada M
Publication Date: 2007-04-05

Variant appearance in text: APC: 531+5G>C
PubMed Link: 17411426
Variant Present in the following documents:
  • Main text
  • 1471-2350-8-16.pdf
View BVdb publication page