APC c.918T>A ;(p.S306R)

Variant ID: 5-112151275-T-A

NM_000038.5(APC):c.918T>A;(p.S306R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics
Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C
Publication Date: 2018-04

Variant appearance in text: APC: S306R
PubMed Link: 29684080
Variant Present in the following documents:
  • pgen.1007352.s010.xlsx, sheet 1
View BVdb publication page



Variability in dentofacial phenotypes in four families with WNT10A mutations.

European Journal Of Human Genetics : Ejhg
Vink, Christian P CP; Ockeloen, Charlotte W CW; ten Kate, Sietske S; Koolen, David A DA; Ploos van Amstel, Johannes Kristian JK; Kuijpers-Jagtman, Anne-Marie AM; van Heumen, Celeste C CC; Kleefstra, Tjitske T; Carels, Carine E L CE
Publication Date: 2014-09

Variant appearance in text: APC: 918T>A
PubMed Link: 24398796
Variant Present in the following documents:
  • Main text
View BVdb publication page