KIT c.2446_2447delinsAC ;(p.D816T)

Variant ID: 4-55599320-GA-AC

NM_000222.2(KIT):c.2446_2447delinsAC;(p.D816T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Mast Cell Leukemia: Clinical and Molecular Features and Survival Outcomes of Patients in the ECNM Registry.

Blood Advances
Kennedy, Vanessa E VE; Perkins, Cecelia C; Reiter, Andreas A; Jawhar, Mohamad M; Lübke, Johannes J; Kluin-Nelemans, Hanneke C HC; Shomali, William W; Langford, Cheryl C; Abuel, Justin J; Hermine, Olivier O; Niedoszytko, Marek M; Gorska, Aleksandra A; Mital, Andrzej A; Bonadonna, Patrizia P; Zanotti, Roberta R; Tanasi, Ilaria I; Mattsson, Mattias M; Hagglund, Hans G HG; Triggiani, Massimo M; Yavuz, Akif Selim AS; Panse, Jens Peter JP; Christen, Deborah D; Heizmann, Marc M; Shoumariyeh, Khalid K; Müller, Sabine S; Elena, Chiara C; Malcovati, Luca L; Fiorelli, Nicolas N; Wortmann, Friederike F; Vucinic, Vladan V; Brockow, Knut K; Fokoloros, Christos C; Papageorgiou, Sotirios G SG; Breynaert, Christine C; Bullens, Dominique D; Doubek, Michael M; Ilerhaus, Anja A; Angelova-Fischer, Irena I; Solomianyi, Oleksii O; Varkonyi, Judit J; Sabato, Vito V; Rüfer, Axel A; Schug, Tanja T; Hermans, Maud A W MAW; Belloni Fortina, Anna A; Caroppo, Francesca F; Bumbea, Horia H; Gulen, Theo T; Hartmann, Karin K; Oude Elberink, Hanneke H; Schwaab, Juliana J; Arock, Michel M; Valent, Peter P; Sperr, Wolfgang W; Gotlib, Jason J
Publication Date: 2022-09-12

Variant appearance in text: KIT: D816T
PubMed Link: 36094848
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: KIT: D816T
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Mastocytosis: immunophenotypical features of the transformed mast cells are unique among hematopoietic cells.

Immunology And Allergy Clinics Of North America
Horny, Hans-Peter HP; Sotlar, Karl K; Valent, Peter P
Publication Date: 2014-05

Variant appearance in text: KIT: D816T
PubMed Link: 24745676
Variant Present in the following documents:
  • Main text
View BVdb publication page