KMT2D c.13663_13671del ;(p.L4555_Q4557del)

Variant ID: 12-49424675-CCTGTTTCAG-C

NM_003482.3(KMT2D):c.13663_13671del;(p.L4555_Q4557del)

This variant was identified in 3 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.

Leukemia
Jahn, Nikolaus N; Jahn, Ekaterina E; Saadati, Maral M; Bullinger, Lars L; Larson, Richard A RA; Ottone, Tiziana T; Amadori, Sergio S; Prior, Thomas W TW; Brandwein, Joseph M JM; Appelbaum, Frederick R FR; Medeiros, Bruno C BC; Tallman, Martin S MS; Ehninger, Gerhard G; Heuser, Michael M; Ganser, Arnold A; Pallaud, Celine C; Gathmann, Insa I; Krzykalla, Julia J; Benner, Axel A; Bloomfield, Clara D CD; Thiede, Christian C; Stone, Richard M RM; Döhner, Hartmut H; Döhner, Konstanze K
Publication Date: 2022-09

Variant appearance in text: KMT2D: 13663_13671del
PubMed Link: 35922444
Variant Present in the following documents:
  • 41375_2022_1650_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page


Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.

Frontiers In Molecular Biosciences
Bukowska-Olech, Ewelina E; Sowińska-Seidler, Anna A; Larysz, Dawid D; Gawliński, Paweł P; Koczyk, Grzegorz G; Popiel, Delfina D; Gurba-Bryśkiewicz, Lidia L; Materna-Kiryluk, Anna A; Adamek, Zuzanna Z; Szczepankiewicz, Aleksandra A; Dominiak, Paweł P; Glista, Filip F; Matuszewska, Karolina K; Jamsheer, Aleksander A
Publication Date: 2022

Variant appearance in text: KMT2D: 13663_13671del
PubMed Link: 35591945
Variant Present in the following documents:
  • Main text
  • Table1.pdf
  • Table6.xlsx, sheet 1
  • fmolb-09-865494.pdf
View BVdb publication page


Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit.

Leukemia
Cucco, Francesco F; Barrans, Sharon S; Sha, Chulin C; Clipson, Alexandra A; Crouch, Simon S; Dobson, Rachel R; Chen, Zi Z; Thompson, Joe Sneath JS; Care, Matthew A MA; Cummin, Thomas T; Caddy, Josh J; Liu, Hongxiang H; Robinson, Anne A; Schuh, Anna A; Fitzgibbon, Jude J; Painter, Daniel D; Smith, Alexandra A; Roman, Eve E; Tooze, Reuben R; Burton, Catherine C; Davies, Andrew J AJ; Westhead, David R DR; Johnson, Peter W M PWM; Du, Ming-Qing MQ
Publication Date: 2020-05

Variant appearance in text: KMT2D: 13663_13671del
PubMed Link: 31844144
Variant Present in the following documents:
  • 41375_2019_691_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page