KIT c.1675G>C ;(p.V559L)

Variant ID: 4-55593609-G-C

NM_000222.2(KIT):c.1675G>C;(p.V559L)

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:

Dystrophin deregulation is associated with tumor progression in KIT/PDGFRA mutant gastrointestinal stromal tumors.

Clinical Sarcoma Research
Pantaleo, Maria A MA; Astolfi, Annalisa A; Urbini, Milena M; Fuligni, Fabio F; Saponara, Maristella M; Nannini, Margherita M; Lolli, Cristian C; Indio, Valentina V; Santini, Donatella D; Ercolani, Giorgio G; Brandi, Giovanni G; Pinna, Antonio D AD; Biasco, Guido G
Publication Date: 2014

Variant appearance in text: KIT: V559L
PubMed Link: 25143820
Variant Present in the following documents:
  • Main text
  • 2045-3329-4-9.pdf
View BVdb publication page