KMT2D c.839G>T ;(p.R280M)

Variant ID: 12-49447259-C-A

NM_003482.3(KMT2D):c.839G>T;(p.R280M)

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:

MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology
Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2021-12-15

Variant appearance in text: KMT2D: 839G>T; Arg280Ile
PubMed Link: 34912045
Variant Present in the following documents:
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page


MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology
Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2021-12-15

Variant appearance in text: KMT2D: 839G>T; Arg280Ile
PubMed Link: 34912045
Variant Present in the following documents:
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page


Genomic Analyses of Metaplastic or Sarcomatoid Carcinomas From Different Organs Revealed Frequent Mutations in KMT2D.

Frontiers In Molecular Biosciences
Zheng, Biqiang B; Song, Zhijian Z; Chen, Yong Y; Yan, Wangjun W
Publication Date: 2021

Variant appearance in text: KMT2D: R280M
PubMed Link: 34336928
Variant Present in the following documents:
  • Table2.xlsx, sheet 1
View BVdb publication page