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TTN c.73783G>A ;(p.A24595T)
Variant ID: 2-179437076-C-T
NM_001267550.1(
TTN
):c.73783G>A;(p.A24595T)
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:
Evolving neoantigen profiles in colorectal cancers with DNA repair defects.
Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28
Variant appearance in text: TTN: A24595T
PubMed Link:
31253177
Variant Present in the following documents:
13073_2019_654_MOESM2_ESM.xlsx, sheet 55
View BVdb publication page
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: 73783G>A
PubMed Link:
29263846
Variant Present in the following documents:
41525_2017_39_MOESM1_ESM.pdf
View BVdb publication page