TTN c.103910G>A ;(p.R34637Q)

Variant ID: 2-179397432-C-T

NM_001267550.1(TTN):c.103910G>A;(p.R34637Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: TTN: R34637Q; rs199642423
PubMed Link: 29263839
Variant Present in the following documents:
  • 41525_2017_32_MOESM8_ESM.xlsx, sheet 6
View BVdb publication page



The sarcomeric M-region: a molecular command center for diverse cellular processes.

Biomed Research International
Hu, Li-Yen R LY; Ackermann, Maegen A MA; Kontrogianni-Konstantopoulos, Aikaterini A
Publication Date: 2015

Variant appearance in text: LGMD2J: R34637Q
PubMed Link: 25961035
Variant Present in the following documents:
  • Main text
  • BMRI2015-714197.pdf
View BVdb publication page