KMT2D c.11647_11648insGCTC ;(p.H3883Rfs*130)

Variant ID: 12-49426840-T-TGAGC

NM_003482.3(KMT2D):c.11647_11648insGCTC;(p.H3883Rfs*130)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Transcriptome sequencing in pediatric acute lymphoblastic leukemia identifies fusion genes associated with distinct DNA methylation profiles.

Journal Of Hematology & Oncology
Marincevic-Zuniga, Yanara Y; Dahlberg, Johan J; Nilsson, Sara S; Raine, Amanda A; Nystedt, Sara S; Lindqvist, Carl Mårten CM; Berglund, Eva C EC; Abrahamsson, Jonas J; Cavelier, Lucia L; Forestier, Erik E; Heyman, Mats M; Lönnerholm, Gudmar G; Nordlund, Jessica J; Syvänen, Ann-Christine AC
Publication Date: 2017-08-14

Variant appearance in text: N/A
PubMed Link: 28806978
Variant Present in the following documents:
View BVdb publication page



The mutational landscape in pediatric acute lymphoblastic leukemia deciphered by whole genome sequencing.

Human Mutation
Lindqvist, Carl Mårten CM; Nordlund, Jessica J; Ekman, Diana D; Johansson, Anna A; Moghadam, Behrooz Torabi BT; Raine, Amanda A; Övernäs, Elin E; Dahlberg, Johan J; Wahlberg, Per P; Henriksson, Niklas N; Abrahamsson, Jonas J; Frost, Britt-Marie BM; Grandér, Dan D; Heyman, Mats M; Larsson, Rolf R; Palle, Josefine J; Söderhäll, Stefan S; Forestier, Erik E; Lönnerholm, Gudmar G; Syvänen, Ann-Christine AC; Berglund, Eva C EC
Publication Date: 2015-01

Variant appearance in text: KMT2D: 11647_11648insGCTC; H3883fs
PubMed Link: 25355294
Variant Present in the following documents:
  • Main text
  • humu0036-0118.pdf
View BVdb publication page