APC c.5225G>A ;(p.R1742H)

Variant ID: 5-112176516-G-A

NM_000038.5(APC):c.5225G>A;(p.R1742H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Response to Anti-HER2-Based Treatment in a Patient with Bladder Adenocarcinoma Harboring HER2 Amplification and S310F Mutation Discovered by Next-Generation Sequencing: A Case Report.

Oncotargets And Therapy
Wang, Xiaolu X; Hu, Wenjing W; Xie, Li L
Publication Date: 2020

Variant appearance in text: APC: R1742H
PubMed Link: 32547059
Variant Present in the following documents:
  • Main text
  • ott-13-4249.pdf
View BVdb publication page



Prospective evaluation of NGS-based liquid biopsy in untreated late stage non-squamous lung carcinoma in a single institution.

Journal Of Translational Medicine
Heeke, Simon S; Hofman, Véronique V; Ilié, Marius M; Allegra, Maryline M; Lespinet, Virginie V; Bordone, Olivier O; Benzaquen, Jonathan J; Boutros, Jacques J; Poudenx, Michel M; Lalvée, Salomé S; Tanga, Virginie V; Salacroup, Carole C; Bonnetaud, Christelle C; Marquette, Charles-Hugo CH; Hofman, Paul P
Publication Date: 2020-02-17

Variant appearance in text: APC: R1742H
PubMed Link: 32066459
Variant Present in the following documents:
  • 12967_2020_2259_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: rs199775075
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 2
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: 5225G>A; Arg1742His
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page