APC c.1118_1119delinsAA ;(p.S373*)

Variant ID: 5-112154847-CC-AA

NM_000038.5(APC):c.1118_1119delinsAA;(p.S373*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72.

Bmc Medical Genetics
Nilbert, Mef M; Kristoffersson, Ulf U; Ericsson, Mats M; Johannsson, Oskar O; Rambech, Eva E; Mangell, Peter P
Publication Date: 2008-11-26

Variant appearance in text: APC: S373X
PubMed Link: 19036155
Variant Present in the following documents:
  • Main text
  • 1471-2350-9-101.pdf
View BVdb publication page