Gene entry
NEFH
neurofilament heavy chain
- Chromosome
- 22
- Cytoband
- 22q12.2
- Variants (rsID)
- 3
NEFH is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 22 (region 22q12.2). Its official name is “neurofilament heavy chain”. The reference table lists 3 variants (rsID) for this gene.
Clinically classified variants
1 reference-table entries with clinical significance.
- rs165602Benignsingle nucleotide variantAmyotrophic lateral sclerosis type 1|Charcot-Marie-Tooth disease axonal type 2CC
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.