APC c.6743A>G ;(p.K2248R)

Variant ID: 5-112178034-A-G

NM_000038.5(APC):c.6743A>G;(p.K2248R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients.

European Journal Of Human Genetics : Ejhg
Ciavarella, Michele M; Miccoli, Sara S; Prossomariti, Anna A; Pippucci, Tommaso T; Bonora, Elena E; Buscherini, Francesco F; Palombo, Flavia F; Zuntini, Roberta R; Balbi, Tiziana T; Ceccarelli, Claudio C; Bazzoli, Franco F; Ricciardiello, Luigi L; Turchetti, Daniela D; Piazzi, Giulia G
Publication Date: 2018-03

Variant appearance in text: APC: 6743A>G
PubMed Link: 29367705
Variant Present in the following documents:
  • Main text
View BVdb publication page