NF1 c.6648C>T ;(p.C2216=)

Variant ID: 17-29664842-C-T

NM_001042492.2(NF1):c.6648C>T;(p.C2216=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.

Neuro-Oncology Advances
Guerrini-Rousseau, Léa L; Varlet, Pascale P; Colas, Chrystelle C; Andreiuolo, Felipe F; Bourdeaut, Franck F; Dahan, Karin K; Devalck, Christine C; Faure-Conter, Cécile C; Genuardi, Maurizio M; Goldberg, Yael Y; Kuhlen, Michaela M; Moalla, Salma S; Opocher, Enrico E; Perez-Alonso, Vanessa V; Sehested, Astrid A; Slavc, Irene I; Unger, Sheila S; Wimmer, Katharina K; Grill, Jacques J; Brugières, Laurence L
Publication Date: 2019

Variant appearance in text: NF1: c2216C
PubMed Link: 32642664
Variant Present in the following documents:
  • Main text
  • vdz033.pdf
View BVdb publication page



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: 6648C>T
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-6.xlsx, sheet 1
  • NIHMS958974-supplement-5.xlsx, sheet 1
View BVdb publication page