KIT c.1769G>T ;(p.S590I)

Variant ID: 4-55593703-G-T

NM_000222.2(KIT):c.1769G>T;(p.S590I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: S590I
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Molecular Profiling of Hard-to-Treat Childhood and Adolescent Cancers.

Jama Network Open
Khater, Fida F; Vairy, Stephanie S; Langlois, Sylvie S; Dumoucel, Sophie S; Sontag, Thomas T; St-Onge, Pascal P; Bittencourt, Henrique H; Dal Soglio, Dorothée D; Champagne, Josette J; Duval, Michel M; Leclerc, Jean-Marie JM; Laverdiere, Caroline C; Tran, Thai Hoa TH; Patey, Natalie N; Ellezam, Benjamin B; Perreault, Sébastien S; Piché, Nelson N; Samson, Yvan Y; Teira, Pierre P; Jabado, Nada N; Michon, Bruno B; Brossard, Josée J; Marzouki, Monia M; Cellot, Sonia S; Sinnett, Daniel D
Publication Date: 2019-04-05

Variant appearance in text: KIT: S590I
PubMed Link: 31026031
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

British Journal Of Cancer
Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB
Publication Date: 2015-04-14

Variant appearance in text: KIT: 1769G>T; Ser590Ile
PubMed Link: 25742471
Variant Present in the following documents:
  • bjc201580x7.xls, sheet 1
View BVdb publication page