Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

NEFL

neurofilament light chain

Chromosome
8
Cytoband
8p21.2
Variants (rsID)
10

NEFL is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8p21.2). Its official name is “neurofilament light chain”. The reference table lists 10 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

10 reference-table entries with clinical significance.

  • rs185200977Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 2E
  • rs60547413Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 1F|Charcot-Marie-Tooth disease type 2E|Charcot-Marie-Tooth disease
  • rs62636522Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2E|Charcot-Marie-Tooth disease type 1F|Charcot-Marie-Tooth disease
  • rs79736124Likely benignsingle nucleotide variantCharcot-Marie-Tooth disease, type I
  • rs28928910Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2E|Charcot-Marie-Tooth disease type 1C|Peripheral demyelination|Distal muscle weakness|Peripheral neuropathy|Hand muscle atrophy|Decreased nerve conduction velocity|Peripheral neuropathy|Pes cavus|Distal lower limb muscle weakness|Charcot-Marie-Tooth disease type 1F
  • rs58982919Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 1F|Charcot-Marie-Tooth disease type 2E|Charcot-Marie-Tooth disease, dominant intermediate G|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 1F|Charcot-Marie-Tooth disease, dominant intermediate G|Charcot-Marie-Tooth disease type 2E|Sensorineural hearing loss disorder|Developmental disorder
  • rs59443585Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2E
  • rs62636503Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2E|Charcot-Marie-Tooth disease, dominant intermediate G|Charcot-Marie-Tooth disease
  • rs151208148Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease type 2E
  • rs587777888Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease type 2E

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.