KIT c.1724A>T ;(p.Q575L)

Variant ID: 4-55593658-A-T

NM_000222.2(KIT):c.1724A>T;(p.Q575L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutations driving CLL and their evolution in progression and relapse.

Nature
Landau, Dan A DA; Tausch, Eugen E; Taylor-Weiner, Amaro N AN; Stewart, Chip C; Reiter, Johannes G JG; Bahlo, Jasmin J; Kluth, Sandra S; Bozic, Ivana I; Lawrence, Mike M; Böttcher, Sebastian S; Carter, Scott L SL; Cibulskis, Kristian K; Mertens, Daniel D; Sougnez, Carrie L CL; Rosenberg, Mara M; Hess, Julian M JM; Edelmann, Jennifer J; Kless, Sabrina S; Kneba, Michael M; Ritgen, Matthias M; Fink, Anna A; Fischer, Kirsten K; Gabriel, Stacey S; Lander, Eric S ES; Nowak, Martin A MA; Döhner, Hartmut H; Hallek, Michael M; Neuberg, Donna D; Getz, Gad G; Stilgenbauer, Stephan S; Wu, Catherine J CJ
Publication Date: 2015-10-22

Variant appearance in text: KIT: 1724A>T; Q575L
PubMed Link: 26466571
Variant Present in the following documents:
  • NIHMS715090-supplement-Supplementary_Table_3.xlsx, sheet 1
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Sporadic segmental Interstitial cell of cajal hyperplasia (microscopic GIST) with unusual diffuse longitudinal growth replacing the muscularis propria: differential diagnosis to hereditary GIST syndromes.

International Journal Of Clinical And Experimental Pathology
Agaimy, Abbas A; Märkl, Bruno B; Arnholdt, Hans H; Hartmann, Arndt A; Schneider-Stock, Regine R; Chetty, Runjan R
Publication Date: 2010-05-31

Variant appearance in text: KIT: Q575L
PubMed Link: 20606738
Variant Present in the following documents:
  • Main text
View BVdb publication page