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Gene entry

RETREG1

reticulophagy regulator 1

Chromosome
5
Cytoband
5p15.1
Variants (rsID)
36

RETREG1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5p15.1). Its official name is “reticulophagy regulator 1”. The reference table lists 36 variants (rsID) for this gene.

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Clinically classified variants

4 reference-table entries with clinical significance.

  • rs332811Benignsingle nucleotide variantNeuropathy, hereditary sensory and autonomic, type 2B
  • rs143878016Conflicting interpretationssingle nucleotide variantNeuropathy, hereditary sensory and autonomic, type 2B
  • rs750740230Conflicting interpretationssingle nucleotide variantNeuropathy, hereditary sensory and autonomic, type 2B
  • rs137852739Pathogenicsingle nucleotide variantNeuropathy, hereditary sensory and autonomic, type 2B|Charcot-Marie-Tooth disease

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.