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.
