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Gene entry

HINT1

histidine triad nucleotide binding protein 1

Chromosome
5
Cytoband
5q23.3
Variants (rsID)
2

HINT1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q23.3). Its official name is “histidine triad nucleotide binding protein 1”. The reference table lists 2 variants (rsID) for this gene.

Clinically classified variants

2 reference-table entries with clinical significance.

  • rs4696Benignsingle nucleotide variantAutosomal recessive axonal neuropathy with neuromyotonia
  • rs149782619Pathogenicsingle nucleotide variantAutosomal recessive axonal neuropathy with neuromyotonia|Peripheral neuropathy

Public references

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