PALB2 c.2998_3000del ;(p.G1000del)

Variant ID: 16-23632796-TGCC-T

NM_024675.3(PALB2):c.2998_3000del;(p.G1000del)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.

Journal Of Medical Genetics
Lopez-Perolio, Irene I; Leman, Raphaël R; Behar, Raquel R; Lattimore, Vanessa V; Pearson, John F JF; Castéra, Laurent L; Martins, Alexandra A; Vaur, Dominique D; Goardon, Nicolas N; Davy, Grégoire G; Garre, Pilar P; García-Barberán, Vanesa V; Llovet, Patricia P; Pérez-Segura, Pedro P; Díaz-Rubio, Eduardo E; Caldés, Trinidad T; Hruska, Kathleen S KS; Hsuan, Vickie V; Wu, Sitao S; Pesaran, Tina T; Karam, Rachid R; Vallon-Christersson, Johan J; Borg, Ake A; , ; Valenzuela-Palomo, Alberto A; Velasco, Eladio A EA; Southey, Melissa M; Vreeswijk, Maaike P G MPG; Devilee, Peter P; Kvist, Anders A; Spurdle, Amanda B AB; Walker, Logan C LC; Krieger, Sophie S; de la Hoya, Miguel M
Publication Date: 2019-07

Variant appearance in text: PALB2: Gly1000del
PubMed Link: 30890586
Variant Present in the following documents:
  • Main text
  • jmedgenet-2018-105834supp001.xlsx, sheet 1
  • jmedgenet-2018-105834.pdf
View BVdb publication page