NYNRIN c.312G>A ;(p.W104*)

Variant ID: 14-24877188-G-A

NM_025081.2(NYNRIN):c.312G>A;(p.W104*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of new Wilms tumour predisposition genes: an exome sequencing study.

The Lancet. Child & Adolescent Health
Mahamdallie, Shazia S; Yost, Shawn S; Poyastro-Pearson, Emma E; Holt, Esty E; Zachariou, Anna A; Seal, Sheila S; Elliott, Anna A; Clarke, Matthew M; Warren-Perry, Margaret M; Hanks, Sandra S; Anderson, John J; Bomken, Simon S; Cole, Trevor T; Farah, Roula R; Furtwaengler, Rhoikos R; Glaser, Adam A; Grundy, Richard R; Hayden, James J; Lowis, Steve S; Millot, Frédéric F; Nicholson, James J; Ronghe, Milind M; Skeen, Jane J; Williams, Denise D; Yeomanson, Daniel D; Ruark, Elise E; Rahman, Nazneen N
Publication Date: 2019-05

Variant appearance in text: NYNRIN: Trp104X
PubMed Link: 30885698
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017

Variant appearance in text: NYNRIN: W104*
PubMed Link: 29263839
Variant Present in the following documents:
  • 41525_2017_32_MOESM8_ESM.xlsx, sheet 6
View BVdb publication page