The NEFL gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol NEFL
Gene name neurofilament, light polypeptide
Chromosome 8
Chromosomal band p21.2
Imprinted Unknown
Genomic reference NG_008492.1
Transcript reference NM_006158.4
Exon/intron information NM_006158.4 exon/intron table
Associated with diseases CMT1F, CMT2E, CMTDIG
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Global Variome, with Curator vacancy and Johan den Dunnen
Total number of public variants reported 121
Unique public DNA variants reported 73
Individuals with public variants 123
Hidden variants 3
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:

Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB.
Date created April 29, 2010
Date last updated November 27, 2023
Version NEFL:231127

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_006158.4.
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 IPNMDB - Inherited Peripheral Neuropathies Mutation DataBase
HGNC 7739
Entrez Gene 4747
PubMed articles NEFL
OMIM - Gene 162280
OMIM - Diseases CMT1F (Charcot-Marie-Tooth disease, type IF (CMT-1F))
CMT2E (Charcot-Marie-Tooth disease, type 2E (CMT-2E))
CMTDIG (Charcot-Marie-Tooth disease, dominant intermediate G)
GeneCards NEFL
GeneTests NEFL
Orphanet NEFL

Active transcripts




NCBI ID     

NCBI Protein ID     

00025355 8 neurofilament, light polypeptide NM_006158.4 NP_006149.2 121

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 © 2010-2023. 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.

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