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KIT c.348G>T ;(p.K116N)
Variant ID: 4-55564460-G-T
NM_000222.2(
KIT
):c.348G>T;(p.K116N)
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:
Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics.
Immunology
Haenisch, Britta B; Nöthen, Markus M MM; Molderings, Gerhard J GJ
Publication Date: 2012-11
Variant appearance in text: KIT: K116N
PubMed Link:
22957768
Variant Present in the following documents:
Main text
View BVdb publication page