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Gene

NEFL

neurofilament light chain

Summary

Cytogenetic location
8p21.2
Coordinates
Chromosome 8: 24,950,955–24,956,612 (GRCh38)
Exons
4 exons across 5.7 kb
Protein
543 amino acids
Also known as
NFL, CMT1F, CMT2E, NF68, PPP1R110
MANE Select transcript
ENST00000610854.2NM_006158.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Charcot-Marie-Tooth Disease

      • One of 62 genes linked to it

        A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

        • ClinGen rates the link definitive
        • 3 GenCC submitters rate it definitive or strong
        What knowing changes

        Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

    How NEFL is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    Chromosome 8, with a bracket where NEFL sits. NEFL and 5 genes near it on chromosome 8, from 24,453,784 to 25,453,783.Chromosome 88p21.2p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.324.6 Mb24.8 Mb25 Mb25.2 Mb25.4 MbADAM7: 24,440,930–24,526,970, forward strandADAM7NEFM: 24,913,758–24,919,098, forward strandNEFMNEFL: 24,950,955–24,956,612, reverse strandNEFLDOCK5: 25,184,342–25,418,082, forward strandDOCK5GNRH1: 25,419,258–25,424,654, reverse strandGNRH1KCTD9: 25,427,455–25,458,476, reverse strandKCTD9Diagram of NEFL: 4 exons on the reverse strand of chromosome 8Exon 3: 9 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 1: 33 known disease-causing sitesExon 4: 24,950,955–24,952,952, 1,998 basesExon 3: 24,953,476–24,953,795, 320 basesExon 2: 24,954,181–24,954,305, 125 basesExon 1: 24,955,472–24,956,612, 1,141 bases43215′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 3.6 kb of the gene's 5.7 kb; 1,632 of those bases code for the protein.

    How a genome test reads NEFL

    46

    positions in NEFL where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 5.7 kb of NEFL, introns included, not only the 3.6 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). NEFL gene: neurofilament light chain. Retrieved 17 October 2026, from https://dantelabs.com/genes/nefl

    Vancouver

    Dante Labs. NEFL gene: neurofilament light chain [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nefl

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