KMT2D c.3299dup ;(p.D1100Efs*15)

Variant ID: 12-49444071-G-GT

NM_003482.3(KMT2D):c.3299dup;(p.D1100Efs*15)

This variant was identified in 2 publications

View GRCh38 version.




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: 3299dupA; D1100fs
PubMed Link: 35922444
Variant Present in the following documents:
  • 41375_2022_1650_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



KMT2D/MLL2 inactivation is associated with recurrence in adult-type granulosa cell tumors of the ovary.

Nature Communications
Hillman, R Tyler RT; Celestino, Joseph J; Terranova, Christopher C; Beird, Hannah C HC; Gumbs, Curtis C; Little, Latasha L; Nguyen, Tri T; Thornton, Rebecca R; Tippen, Samantha S; Zhang, Jianhua J; Lu, Karen H KH; Gershenson, David M DM; Rai, Kunal K; Broaddus, Russell R RR; Futreal, P Andrew PA
Publication Date: 2018-06-27

Variant appearance in text: KMT2D: 3299dupA; Asp1100fs
PubMed Link: 29950560
Variant Present in the following documents:
  • Main text
  • 41467_2018_4950_MOESM1_ESM.pdf
  • 41467_2018_Article_4950.pdf
View BVdb publication page