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