KIT c.1708del ;(p.Y570Tfs*2)

Variant ID: 4-55593639-GT-G

NM_000222.2(KIT):c.1708del;(p.Y570Tfs*2)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Comparative analysis of nuclear and mitochondrial DNA from tissue and liquid biopsies of colorectal cancer patients.

Scientific Reports
Haupts, Anna A; Vogel, Anne A; Foersch, Sebastian S; Hartmann, Monika M; Maderer, Annett A; Wachter, Nicolas N; Huber, Tobias T; Kneist, Werner W; Roth, Wilfried W; Lang, Hauke H; Moehler, Markus M; Hartmann, Nils N
Publication Date: 2021-08-18

Variant appearance in text: KIT: 1708del
PubMed Link: 34408162
Variant Present in the following documents:
  • Main text
  • 41598_2021_95006_MOESM1_ESM.xlsx, sheet 2
  • 41598_2021_Article_95006.pdf
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: KIT: 1708delT; Tyr570fs
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s10.xlsx, sheet 8
View BVdb publication page