KIT c.1468_1512del ;(p.E490_F504del)

Variant ID: 4-55592141-GTTGAATGTAAGGCTTACAACGATGTGGGCAAGACTTCTGCCTATT-G

NM_000222.2(KIT):c.1468_1512del;(p.E490_F504del)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors.

Bmc Medical Genetics
Merkelbach-Bruse, Sabine S; Dietmaier, Wolfgang W; Füzesi, Laszlo L; Gaumann, Andreas A; Haller, Florian F; Kitz, Julia J; Krohn, Antje A; Mechtersheimer, Gunhild G; Penzel, Roland R; Schildhaus, Hans-Ulrich HU; Schneider-Stock, Regine R; Simon, Ronald R; Wardelmann, Eva E
Publication Date: 2010-07-04

Variant appearance in text: KIT: E490_F504del
PubMed Link: 20598160
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-106.pdf
View BVdb publication page