KIT c.1951_1952delinsGG ;(p.M651G)

Variant ID: 4-55594248-AT-GG

NM_000222.2(KIT):c.1951_1952delinsGG;(p.M651G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Exon 11 homozygous mutations and intron 10/exon 11 junction deletions in the KIT gene are associated with poor prognosis of patients with gastrointestinal stromal tumors.

Cancer Medicine
Shen, Yan-Ying YY; Ma, Xin-Li XL; Wang, Ming M; Zhuang, Chun C; Ni, Bo B; Tu, Lin L; Liu, Qiang Q; Zhao, Wen-Yi WY; Cao, Hui H
Publication Date: 2020-09

Variant appearance in text: KIT: M651G
PubMed Link: 32697050
Variant Present in the following documents:
  • Main text
  • CAM4-9-6485.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: M651G
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page