PALB2 c.179A>G ;(p.Q60R)

Variant ID: 16-23649203-T-C

NM_024675.3(PALB2):c.179A>G;(p.Q60R)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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: Q60R
PubMed Link: 31757951
Variant Present in the following documents:
  • 41467_2019_13194_MOESM1_ESM.pdf
View BVdb publication page