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KMT2D c.4265G>A ;(p.W1422*)
Variant ID: 12-49440545-C-T
NM_003482.3(
KMT2D
):c.4265G>A;(p.W1422*)
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:
The mutational repertoire of uterine sarcomas and carcinosarcomas in a Brazilian cohort: A preliminary study.
Clinics (Sao Paulo, Brazil)
da Costa, Leonardo Tomiatti LT; Dos Anjos, Laura Gonzalez LG; Kagohara, Luciane Tsukamoto LT; Torrezan, Giovana Tardin GT; De Paula, Claudia A Andrade CAA; Baracat, Edmund Chada EC; Carraro, Dirce Maria DM; Carvalho, Katia Candido KC
Publication Date: 2021
Variant appearance in text: KMT2D: 4265G>A
PubMed Link:
33503190
Variant Present in the following documents:
Main text
View BVdb publication page
Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.
Bmc Cancer
Zhang, Wei W; Yang, Li L; Guan, Yu' Qi YQ; Shen, Ke' Feng KF; Zhang, Mei' Lan ML; Cai, Hao' Dong HD; Wang, Jia' Chen JC; Wang, Ying Y; Huang, Liang L; Cao, Yang Y; Wang, Na N; Tan, Xiao' Hong XH; Young, Ken He KH; Xiao, Min M; Zhou, Jian' Feng JF
Publication Date: 2020-07-31
Variant appearance in text: KMT2D: 4265G>A; Trp1422*
PubMed Link:
32736575
Variant Present in the following documents:
12885_2020_7198_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page