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TTN c.464A>G ;(p.E155G)
Variant ID: 2-179665241-T-C
NM_001267550.1(
TTN
):c.464A>G;(p.E155G)
This variant was identified in 2 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: E155G
PubMed Link:
29263839
Variant Present in the following documents:
41525_2017_32_MOESM8_ESM.xlsx, sheet 2
View BVdb publication page
Crystal structure of a human GABAA receptor.
Nature
Miller, Paul S PS; Aricescu, A Radu AR
Publication Date: 2014-08-21
Variant appearance in text: TMD: Glu155Gly
PubMed Link:
24909990
Variant Present in the following documents:
Main text
emss-57867.pdf
View BVdb publication page