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 FSNF, ID, JMML, NF, NF1, NFNS, WTSN, melanoma, desmoplastic neurotrophic
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Rick van Minkelen
Total number of public variants reported 7937
Unique public DNA variants reported 3750
Individuals with public variants 57657
Hidden variants 111
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 August 19, 2022
Version NF1:220819

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 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 FSNF (neurofibromatosis, familial spinal)
NF1 (neurofibromatosis, type 1 (NF1))
NFNS (neurofibromatosis-Noonan syndrome (NFNS))
WTSN (Watson syndrome)
GeneCards NF1
GeneTests NF1
Orphanet NF1

Active transcripts




NCBI ID     

NCBI Protein ID     

00014502 17 transcript variant 2 NM_000267.3 NP_000258.1 7937

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2010-2022. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.