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KMT2D c.457G>T ;(p.E153*)
Variant ID: 12-49448143-C-A
NM_003482.3(
KMT2D
):c.457G>T;(p.E153*)
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:
Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.
Cancer Discovery
Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI
Publication Date: 2023-03-02
Variant appearance in text: KMT2D: Glu153Ter
PubMed Link:
36862804
Variant Present in the following documents:
cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6
View BVdb publication page
The Immune Landscape of Chinese Head and Neck Adenoid Cystic Carcinoma and Clinical Implication.
Frontiers In Immunology
Dou, Shengjin S; Li, Rongrong R; He, Ning N; Zhang, Menghuan M; Jiang, Wen W; Ye, Lulu L; Yang, Yining Y; Zhao, Guodong G; Yang, Yadong Y; Li, Jiang J; Chen, Di D; Zhu, Guopei G
Publication Date: 2021
Variant appearance in text: KMT2D: 457G>T; E153X
PubMed Link:
34552580
Variant Present in the following documents:
DataSheet_4.xlsx, sheet 2
View BVdb publication page