KIT c.2345T>C ;(p.F782S)

Variant ID: 4-55598148-T-C

NM_000222.2(KIT):c.2345T>C;(p.F782S)

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: F782S
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page


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: F782S
PubMed Link: 22957768
Variant Present in the following documents:
  • Main text
View BVdb publication page