NF1 c.5768C>G ;(p.T1923R)

Variant ID: 17-29657472-C-G

NM_001042492.2(NF1):c.5768C>G;(p.T1923R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Pediatric Diffuse Midline Gliomas H3 K27M-Mutant and Non-Histone Mutant Midline High-Grade Gliomas in Neurofibromatosis Type 1 in Comparison With Non-Syndromic Children: A Single-Center Pilot Study.

Frontiers In Oncology
Garibotto, Federica F; Madia, Francesca F; Milanaccio, Claudia C; Verrico, Antonio A; Piccardo, Arnoldo A; Tortora, Domenico D; Piatelli, Gianluca G; Diana, Maria Cristina MC; Capra, Valeria V; Garrè, Maria Luisa ML; Rossi, Andrea A; Morana, Giovanni G
Publication Date: 2020

Variant appearance in text: rs786203824
PubMed Link: 32582540
Variant Present in the following documents:
  • Main text
  • fonc-10-00795.pdf
View BVdb publication page



Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine
Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S
Publication Date: 2018-10

Variant appearance in text: rs786203824
PubMed Link: 30274822
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page