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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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