PALB2 c.3119T>C ;(p.L1040S)

Variant ID: 16-23625407-A-G

NM_024675.3(PALB2):c.3119T>C;(p.L1040S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.

Frontiers In Molecular Biosciences
Boonen, Rick A C M RACM; Vreeswijk, Maaike P G MPG; van Attikum, Haico H
Publication Date: 2020

Variant appearance in text: PALB2: 3119T>C; L1040S
PubMed Link: 33195396
Variant Present in the following documents:
  • fmolb-07-00169.pdf
View BVdb publication page



Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.

Nature Communications
Boonen, Rick A C M RACM; Rodrigue, Amélie A; Stoepker, Chantal C; Wiegant, Wouter W WW; Vroling, Bas B; Sharma, Milan M; Rother, Magdalena B MB; Celosse, Nandi N; Vreeswijk, Maaike P G MPG; Couch, Fergus F; Simard, Jacques J; Devilee, Peter P; Masson, Jean-Yves JY; van Attikum, Haico H
Publication Date: 2019-11-22

Variant appearance in text: PALB2: L1040S
PubMed Link: 31757951
Variant Present in the following documents:
  • 41467_2019_Article_13194.pdf
  • 41467_2019_13194_MOESM1_ESM.pdf
  • 41467_2019_13194_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page