APC c.517_520del ;(p.P173*)

Variant ID: 5-112111416-TCTTC-T

NM_000038.5(APC):c.517_520del;(p.P173*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The earliest events in BRAF-mutant colorectal cancer: exome sequencing of sessile serrated lesions with a tiny focus dysplasia or cancer reveals recurring mutations in two distinct progression pathways.

The Journal Of Pathology
Bleijenberg, Arne Gc AG; IJspeert, Joep Eg JE; Mulder, Jos Bg JB; Drillenburg, Paul P; Stel, Herbert V HV; Lodder, Elisabeth M EM; Carvalho, Beatriz B; Jansen, Jade J; Meijer, Gerrit G; van Eeden, Susanne S; Dekker, Evelien E; van Noesel, Carel Jm CJ
Publication Date: 2022-06

Variant appearance in text: APC: 517_520del; P173*
PubMed Link: 35143042
Variant Present in the following documents:
  • PATH-257-239-s001.xlsx, sheet 2
View BVdb publication page



Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.

Bmc Medical Genetics
Stekrova, Jitka J; Sulova, Martina M; Kebrdlova, Vera V; Zidkova, Katerina K; Kotlas, Jaroslav J; Ilencikova, Denisa D; Vesela, Kamila K; Kohoutova, Milada M
Publication Date: 2007-04-05

Variant appearance in text: APC: 517_520delCCTT; Pro173X
PubMed Link: 17411426
Variant Present in the following documents:
  • Main text
  • 1471-2350-8-16.pdf
View BVdb publication page