KIT c.2123A>T ;(p.H708L)

Variant ID: 4-55595633-A-T

NM_000222.2(KIT):c.2123A>T;(p.H708L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: KIT: His708Leu
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Molecular characterization and pathogenesis of gastrointestinal stromal tumor.

Translational Gastroenterology And Hepatology
Niinuma, Takeshi T; Suzuki, Hiromu H; Sugai, Tamotsu T
Publication Date: 2018

Variant appearance in text: KIT: 2123A>T
PubMed Link: 29441367
Variant Present in the following documents:
  • Main text
View BVdb publication page