POLE c.1600del ;(p.L534Wfs*29)

Variant ID: 12-133249299-AG-A

NM_006231.2(POLE):c.1600del;(p.L534Wfs*29)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.

Plos One
Jansen, Anne M L AM; Geilenkirchen, Marije A MA; van Wezel, Tom T; Jagmohan-Changur, Shantie C SC; Ruano, Dina D; van der Klift, Heleen M HM; van den Akker, Brendy E W M BE; Laros, Jeroen F J JF; van Galen, Michiel M; Wagner, Anja A; Letteboer, Tom G W TG; Gómez-García, Encarna B EB; Tops, Carli M J CM; Vasen, Hans F HF; Devilee, Peter P; Hes, Frederik J FJ; Morreau, Hans H; Wijnen, Juul T JT
Publication Date: 2016

Variant appearance in text: POLE: 1600delC
PubMed Link: 27300758
Variant Present in the following documents:
  • pone.0157381.s001.xlsx, sheet 1
View BVdb publication page