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KIT c.2464_2465delinsGT ;(p.N822V)
Variant ID: 4-55599338-AA-GT
NM_000222.2(
KIT
):c.2464_2465delinsGT;(p.N822V)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: N822V
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Gastrointestinal stromal tumors (GISTs): point mutations matter in management, a review.
Journal Of Gastrointestinal Oncology
Oppelt, Peter J PJ; Hirbe, Angela C AC; Van Tine, Brian A BA
Publication Date: 2017-06
Variant appearance in text: KIT: N822V
PubMed Link:
28736634
Variant Present in the following documents:
Main text
View BVdb publication page