KIT c.348G>C ;(p.K116N)

Variant ID: 4-55564460-G-C

NM_000222.2(KIT):c.348G>C;(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