TTN c.104575C>T ;(p.R34859W)

Variant ID: 2-179396767-G-A

NM_001267550.1(TTN):c.104575C>T;(p.R34859W)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome.

Npj Genomic Medicine
Yehia, Lamis L; Ni, Ying Y; Eng, Charis C
Publication Date: 2017

Variant appearance in text: TTN: 104575C>T; R34859W
PubMed Link: 29263846
Variant Present in the following documents:
  • Main text
  • 41525_2017_39_MOESM1_ESM.pdf
  • 41525_2017_Article_39.pdf
View BVdb publication page



Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports
Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK
Publication Date: 2014-11-14

Variant appearance in text: TTN: R34859W
PubMed Link: 25394353
Variant Present in the following documents:
  • srep07063-s2.xls, sheet 2
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: TTN: R34859W
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page