KMT2D c.13890_13894del ;(p.P4631Ifs*14)

Variant ID: 12-49424167-GGGGGT-G

NM_003482.3(KMT2D):c.13890_13894del;(p.P4631Ifs*14)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Relapse timing is associated with distinct evolutionary dynamics in DLBCL.

Medrxiv : The Preprint Server For Health Sciences
Hilton, Laura K LK; Ngu, Henry S HS; Collinge, Brett B; Dreval, Kostiantyn K; Ben-Neriah, Susana S; Rushton, Christopher K CK; Wong, Jasper C H JCH; Cruz, Manuela M; Roth, Andrew A; Boyle, Merrill M; Meissner, Barbara B; Slack, Graham W GW; Farinha, Pedro P; Craig, Jeffrey W JW; Gerrie, Alina S AS; Freeman, Ciara L CL; Villa, Diego D; Crump, Michael M; Shepherd, Lois L; Hay, Annette E AE; Kuruvilla, John J; Savage, Kerry J KJ; Kridel, Robert R; Karsan, Aly A; Marra, Marco A MA; Sehn, Laurie H LH; Steidl, Christian C; Morin, Ryan D RD; Scott, David W DW
Publication Date: 2023-03-08

Variant appearance in text: KMT2D: 13890_13894delACCCC; Pro4631IlefsTer14
PubMed Link: 36945587
Variant Present in the following documents:
  • media-1.xlsx, sheet 14
View BVdb publication page



Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease.

Leukemia
Dawoud, Ahmed A Z AAZ; Gilbert, Rodney D RD; Tapper, William J WJ; Cross, Nicholas C P NCP
Publication Date: 2022-02

Variant appearance in text: KMT2D: 13890_13894del; P4631Ifs*14
PubMed Link: 34413458
Variant Present in the following documents:
  • 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.

American Journal Of Human Genetics
Aref-Eshghi, Erfan E; Bend, Eric G EG; Colaiacovo, Samantha S; Caudle, Michelle M; Chakrabarti, Rana R; Napier, Melanie M; Brick, Lauren L; Brady, Lauren L; Carere, Deanna Alexis DA; Levy, Michael A MA; Kerkhof, Jennifer J; Stuart, Alan A; Saleh, Maha M; Beaudet, Arthur L AL; Li, Chumei C; Kozenko, Maryia M; Karp, Natalya N; Prasad, Chitra C; Siu, Victoria Mok VM; Tarnopolsky, Mark A MA; Ainsworth, Peter J PJ; Lin, Hanxin H; Rodenhiser, David I DI; Krantz, Ian D ID; Deardorff, Matthew A MA; Schwartz, Charles E CE; Sadikovic, Bekim B
Publication Date: 2019-04-04

Variant appearance in text: KMT2D: 13890_13894del; Pro4631Ilefs
PubMed Link: 30929737
Variant Present in the following documents:
  • Main text
View BVdb publication page