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PALB2 c.2574T>C ;(p.V858=)
Variant ID: 16-23640537-A-G
NM_024675.3(
PALB2
):c.2574T>C;(p.V858=)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: V858=
PubMed Link:
33195396
Variant Present in the following documents:
Main text
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: 2574T>C
PubMed Link:
31757951
Variant Present in the following documents:
Main text
41467_2019_13194_MOESM4_ESM.xlsx, sheet 1
41467_2019_Article_13194.pdf
View BVdb publication page