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, NF1, 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 7684
Unique public DNA variants reported 3617
Individuals with public variants 57454
Hidden variants 112
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 13, 2021
Version NF1:211013

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

Active transcripts




NCBI ID     

NCBI Protein ID     

00014502 17 transcript variant 2 NM_000267.3 NP_000258.1 7684

Copyright & disclaimer
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