KMT2D c.10355+1G>A

Variant ID: 12-49428594-C-T

NM_003482.3(KMT2D):c.10355+1G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer.

British Journal Of Cancer
Trotman, Jamie J; Armstrong, Ruth R; Firth, Helen H; Trayers, Claire C; Watkins, James J; Allinson, Kieren K; Jacques, Thomas S TS; Nicholson, James C JC; Burke, G A Amos GAA; , ; Behjati, Sam S; Murray, Matthew J MJ; Hook, Catherine E CE; Tarpey, Patrick P
Publication Date: 2022-07

Variant appearance in text: KMT2D: 10355+1G>A
PubMed Link: 35449451
Variant Present in the following documents:
  • 41416_2022_1788_MOESM4_ESM.pdf
View BVdb publication page



A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications
Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ
Publication Date: 2021-02-10

Variant appearance in text: KMT2D: 10355+1G>A
PubMed Link: 33568653
Variant Present in the following documents:
  • 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



IER5, a DNA damage response gene, is required for Notch-mediated induction of squamous cell differentiation.

Elife
Pan, Li L; Lemieux, Madeleine E ME; Thomas, Tom T; Rogers, Julia M JM; Lipper, Colin H CH; Lee, Winston W; Johnson, Carl C; Sholl, Lynette M LM; South, Andrew P AP; Marto, Jarrod A JA; Adelmant, Guillaume O GO; Blacklow, Stephen C SC; Aster, Jon C JC
Publication Date: 2020-09-16

Variant appearance in text: KMT2D: 10355+1G>A
PubMed Link: 32936072
Variant Present in the following documents:
  • elife-58081.pdf
View BVdb publication page