APC c.1797C>A ;(p.C599*)

Variant ID: 5-112170701-C-A

NM_000038.5(APC):c.1797C>A;(p.C599*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.

Nature Communications
Robinson, Philip S PS; Thomas, Laura E LE; Abascal, Federico F; Jung, Hyunchul H; Harvey, Luke M R LMR; West, Hannah D HD; Olafsson, Sigurgeir S; Lee, Bernard C H BCH; Coorens, Tim H H THH; Lee-Six, Henry H; Butlin, Laura L; Lander, Nicola N; Truscott, Rebekah R; Sanders, Mathijs A MA; Lensing, Stefanie V SV; Buczacki, Simon J A SJA; Ten Hoopen, Rogier R; Coleman, Nicholas N; Brunton-Sim, Roxanne R; Rushbrook, Simon S; Saeb-Parsy, Kourosh K; Lalloo, Fiona F; Campbell, Peter J PJ; Martincorena, IƱigo I; Sampson, Julian R JR; Stratton, Michael R MR
Publication Date: 2022-07-08

Variant appearance in text: APC: C599*
PubMed Link: 35803914
Variant Present in the following documents:
  • 41467_2022_31341_MOESM4_ESM.xlsx, sheet 1
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: 1797C>A; Cys599X
PubMed Link: 20223039
Variant Present in the following documents:
  • Main text
  • 1897-4287-3-3-95.pdf
View BVdb publication page