NF1 c.3983_3986del ;(p.P1328Qfs*14)

Variant ID: 17-29576008-ACCAT-A

NM_001042492.2(NF1):c.3983_3986del;(p.P1328Qfs*14)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Cancers
Melloni, Giulia G; Eoli, Marica M; Cesaretti, Claudia C; Bianchessi, Donatella D; Ibba, Maria Cristina MC; Esposito, Silvia S; Scuvera, Giulietta G; Morcaldi, Guido G; Micheli, Roberto R; Piozzi, Elena E; Avignone, Sabrina S; Chiapparini, Luisa L; Pantaleoni, Chiara C; Natacci, Federica F; Finocchiaro, Gaetano G; Saletti, Veronica V
Publication Date: 2019-11-21

Variant appearance in text: NF1: 3983_3986delCATC; Pro1328Glnfs*14
PubMed Link: 31766501
Variant Present in the following documents:
  • Main text
  • cancers-11-01838.pdf
View BVdb publication page