KIT c.2367T>C ;(p.I789=)

Variant ID: 4-55599241-T-C

NM_000222.2(KIT):c.2367T>C;(p.I789=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: KIT: 2367T>C
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence of c-KIT mutations in gonadoblastoma and dysgerminomas of patients with disorders of sex development (DSD) and ovarian dysgerminomas.

Plos One
Hersmus, Remko R; Stoop, Hans H; van de Geijn, Gert Jan GJ; Eini, Ronak R; Biermann, Katharina K; Oosterhuis, J Wolter JW; Dhooge, Catharina C; Schneider, Dominik T DT; Meijssen, Isabelle C IC; Dinjens, Winand N M WN; Dubbink, Hendrikus Jan HJ; Drop, Stenvert L S SL; Looijenga, Leendert H J LH
Publication Date: 2012

Variant appearance in text: KIT: I789I
PubMed Link: 22937135
Variant Present in the following documents:
  • Main text
  • pone.0043952.pdf
View BVdb publication page