NF1 c.3337C>T ;(p.L1113F)

Variant ID: 17-29559740-C-T

NM_001042492.2(NF1):c.3337C>T;(p.L1113F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population.

Human Genomics
Cardoso, Florencia C FC; Goncalves, Susana S; Mele, Pablo G PG; Liria, Natalia C NC; Sganga, Leonardo L; Diaz Perez, Ignacio I; Podesta, Ernesto J EJ; Solano, Angela R AR
Publication Date: 2018-08-13

Variant appearance in text: NF1: 3337C>T
PubMed Link: 30103829
Variant Present in the following documents:
  • Main text
  • 40246_2018_Article_171.pdf
View BVdb publication page



Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

Bmc Cancer
Machackova, Eva E; Foretova, Lenka L; Lukesova, Mirka M; Vasickova, Petra P; Navratilova, Marie M; Coene, Ilse I; Pavlu, Hana H; Kosinova, Veronika V; Kuklova, Jitka J; Claes, Kathleen K
Publication Date: 2008-05-20

Variant appearance in text: NF1: 3337C>T
PubMed Link: 18489799
Variant Present in the following documents:
  • 1471-2407-8-140.pdf
View BVdb publication page