POLE c.5621_5622del ;(p.C1874Yfs*47)

Variant ID: 12-133214655-TAC-T

NM_006231.2(POLE):c.5621_5622del;(p.C1874Yfs*47)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing.

Scientific Reports
Lorca, Víctor V; Rueda, Daniel D; Martín-Morales, Lorena L; Fernández-Aceñero, María Jesús MJ; Grolleman, Judith J; Poves, Carmen C; Llovet, Patricia P; Tapial, Sandra S; García-Barberán, Vanesa V; Sanz, Julián J; Pérez-Segura, Pedro P; de Voer, Richarda M RM; Díaz-Rubio, Eduardo E; de la Hoya, Miguel M; Caldés, Trinidad T; Garre, Pilar P
Publication Date: 2019-07-08

Variant appearance in text: POLE: 5621_5622delGT
PubMed Link: 31285513
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_46403.pdf
View BVdb publication page