RRN3 c.1392C>A ;(p.F464L)

Variant ID: 16-15163979-G-T

NM_018427.3(RRN3):c.1392C>A;(p.F464L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Publication Date: 2019

Variant appearance in text: rs768653296
PubMed Link: 31681433
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 10
View BVdb publication page



Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer.

Bmc Cancer
Wen, Hongxiu H; Kim, Yeong C YC; Snyder, Carrie C; Xiao, Fengxia F; Fleissner, Elizabeth A EA; Becirovic, Dina D; Luo, Jiangtao J; Downs, Bradley B; Sherman, Simon S; Cowan, Kenneth H KH; Lynch, Henry T HT; Wang, San Ming SM
Publication Date: 2014-06-26

Variant appearance in text: RRN3: F464L
PubMed Link: 24969172
Variant Present in the following documents:
  • 1471-2407-14-470-S2.xlsx, sheet 1
View BVdb publication page