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Gene entry

REEP1

receptor accessory protein 1

Chromosome
2
Cytoband
2p11.2
Variants (rsID)
30

REEP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p11.2). Its official name is “receptor accessory protein 1”. The reference table lists 30 variants (rsID) for this gene.

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Clinically classified variants

6 reference-table entries with clinical significance.

  • rs144874997Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 31
  • rs189652973Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 31
  • rs377637314Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 31|Neuronopathy, distal hereditary motor, type 5B|Hereditary spastic paraplegia
  • rs17510310Likely benignsingle nucleotide variantHereditary spastic paraplegia 31
  • rs377712421Likely benignsingle nucleotide variantHereditary spastic paraplegia 31
  • rs121918262Pathogenicsingle nucleotide variantHereditary spastic paraplegia 31|Spastic paraplegia|Hereditary spastic paraplegia

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.