NF1 c.3748C>A ;(p.R1250=)

Variant ID: 17-29562668-C-A

NM_001042492.2(NF1):c.3748C>A;(p.R1250=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: NF1: 3748C>A
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-5.xlsx, sheet 1
View BVdb publication page



126 novel mutations in Italian patients with neurofibromatosis type 1.

Molecular Genetics & Genomic Medicine
Bianchessi, Donatella D; Morosini, Sara S; Saletti, Veronica V; Ibba, Maria Cristina MC; Natacci, Federica F; Esposito, Silvia S; Cesaretti, Claudia C; Riva, Daria D; Finocchiaro, Gaetano G; Eoli, Marica M
Publication Date: 2015-11

Variant appearance in text: NF1: 3748C>A
PubMed Link: 26740943
Variant Present in the following documents:
  • Main text
  • MGG3-3-513.pdf
View BVdb publication page