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 5996
Unique public DNA variants reported 2697
Individuals with public variants 54747
Hidden variants 101
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 05, 2019
Version NF1:190805

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 http://www.LOVD.nl/NF1
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
HGMD NF1
GeneCards NF1
GeneTests NF1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00014502 17 transcript variant 2 NM_000267.3 NP_000258.1 5996


Copyright & disclaimer
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