KIT c.1769G>C ;(p.S590T)

Variant ID: 4-55593703-G-C

NM_000222.2(KIT):c.1769G>C;(p.S590T)

This variant was identified in 2 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: S590T
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



RTK-RAS pathway mutation is enriched in myeloid sarcoma.

Blood Cancer Journal
Choi, Mihong M; Jeon, Yoon Kyung YK; Sun, Choong-Hyun CH; Yun, Hong-Seok HS; Hong, Junshik J; Shin, Dong-Yeop DY; Kim, Inho I; Yoon, Sung-Soo SS; Koh, Youngil Y
Publication Date: 2018-05-23

Variant appearance in text: KIT: 1769G>C; S590T
PubMed Link: 29789584
Variant Present in the following documents:
  • Main text
  • 41408_2018_Article_83.pdf
View BVdb publication page