KMT2D c.13895del ;(p.P4632Hfs*8)

Variant ID: 12-49424166-TG-T

NM_003482.3(KMT2D):c.13895del;(p.P4632Hfs*8)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 13895delC; P4632fs
PubMed Link: 31844144
Variant Present in the following documents:
  • 41375_2019_691_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.

The Journal Of Clinical Investigation
Bögershausen, Nina N; Tsai, I-Chun IC; Pohl, Esther E; Kiper, Pelin Özlem Simsek PÖ; Beleggia, Filippo F; Percin, E Ferda EF; Keupp, Katharina K; Matchan, Angela A; Milz, Esther E; Alanay, Yasemin Y; Kayserili, Hülya H; Liu, Yicheng Y; Banka, Siddharth S; Kranz, Andrea A; Zenker, Martin M; Wieczorek, Dagmar D; Elcioglu, Nursel N; Prontera, Paolo P; Lyonnet, Stanislas S; Meitinger, Thomas T; Stewart, A Francis AF; Donnai, Dian D; Strom, Tim M TM; Boduroglu, Koray K; Yigit, Gökhan G; Li, Yun Y; Katsanis, Nicholas N; Wollnik, Bernd B
Publication Date: 2015-09

Variant appearance in text: KMT2D: 13895delC; P4632Hfs*8
PubMed Link: 26280580
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Human Genomics
Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP
Publication Date: 2015-06-20

Variant appearance in text: KMT2D: 13895delC
PubMed Link: 26092435
Variant Present in the following documents:
  • Main text
  • 40246_2015_Article_34.pdf
View BVdb publication page