NF1 c.2164G>A ;(p.G722R)

Variant ID: 17-29553615-G-A

NM_001042492.2(NF1):c.2164G>A;(p.G722R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Nature Medicine
Durham, Benjamin H BH; Lopez Rodrigo, Estibaliz E; Picarsic, Jennifer J; Abramson, David D; Rotemberg, Veronica V; De Munck, Steven S; Pannecoucke, Erwin E; Lu, Sydney X SX; Pastore, Alessandro A; Yoshimi, Akihide A; Mandelker, Diana D; Ceyhan-Birsoy, Ozge O; Ulaner, Gary A GA; Walsh, Michael M; Yabe, Mariko M; Petrova-Drus, Kseniya K; Arcila, Maria E ME; Ladanyi, Marc M; Solit, David B DB; Berger, Michael F MF; Hyman, David M DM; Lacouture, Mario E ME; Erickson, Caroline C; Saganty, Ruth R; Ki, Michelle M; Dunkel, Ira J IJ; Santa-María López, Vicente V; Mora, Jaume J; Haroche, Julien J; Emile, Jean-Francois JF; Decaux, Olivier O; Geissmann, Frederic F; Savvides, Savvas N SN; Drilon, Alexander A; Diamond, Eli L EL; Abdel-Wahab, Omar O
Publication Date: 2019-12

Variant appearance in text: NF1: 2164G>A
PubMed Link: 31768065
Variant Present in the following documents:
  • NIHMS1541330-supplement-1.pdf
View BVdb publication page