KMT2D c.9232G>T ;(p.E3078*)

Variant ID: 12-49431907-C-A

NM_003482.3(KMT2D):c.9232G>T;(p.E3078*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Combined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes.

Genome Medicine
Goel, Anshita A; Ward, Douglas G DG; Noyvert, Boris B; Yu, Minghao M; Gordon, Naheema S NS; Abbotts, Ben B; Colbourne, John K JK; Kissane, Stephen S; James, Nicholas D ND; Zeegers, Maurice P MP; Cheng, Kar Keung KK; Cazier, Jean-Baptiste JB; Whalley, Celina M CM; Beggs, Andrew D AD; Palles, Claire C; Arnold, Roland R; Bryan, Richard T RT
Publication Date: 2022-06-03

Variant appearance in text: KMT2D: 9232G>T; Glu3078X
PubMed Link: 35655252
Variant Present in the following documents:
  • 13073_2022_1056_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.

Scientific Reports
Lee, Woo Seung WS; Lee, Junwon J; Choi, Jun Jeong JJ; Kang, Hyun Goo HG; Lee, Sung Chul SC; Kim, Ju Han JH
Publication Date: 2021-09-20

Variant appearance in text: KMT2D: E3078X
PubMed Link: 34545149
Variant Present in the following documents:
  • 41598_2021_98084_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page