The NF1 gene homepage

General information
Gene symbol NF1
Gene name neurofibromin 1
Chromosome 17
Chromosomal band q11.2
Imprinted Unknown
Genomic reference LRG_214
Transcript reference NM_000267.3
Exon/intron information NM_000267.3 exon/intron table
Associated with diseases ID, JMML, NF, NF-1, NFNS, Watson, melanoma, desmoplastic neurotrophic, neurofibromatosis, familial spinal
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Rick van Minkelen
Total number of public variants reported 4980
Unique public DNA variants reported 2710
Individuals with public variants 55196
Hidden variants 1559
Notes Eestablishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated October 01, 2020
Version NF1:201001

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000267.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Orphanet
LOVD - Center for Medical Genetics, Ghent, Belgium (NF1_germline)
LOVD - Center for Medical Genetics, Ghent, Belgium (NF1_somatic)
HGNC 7765
Entrez Gene 4763
PubMed articles NF1
OMIM - Gene 613113
OMIM - Diseases JMML (CMML)
NF-1 (neurofibromatosis, type 1 (NF-1))
NFNS (neurofibromatosis-Noonan syndrome (NFNS))
Watson (Watson syndrome)
neurofibromatosis, familial spinal
GeneCards NF1
GeneTests NF1

Active transcripts




NCBI ID     

NCBI Protein ID     

00014502 17 transcript variant 2 NM_000267.3 NP_000258.1 4980

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2020. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.