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Gene entry

RAPSN

receptor associated protein of the synapse

Chromosome
11
Cytoband
11p11.2
Variants (rsID)
16

RAPSN is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11p11.2). Its official name is “receptor associated protein of the synapse”. The reference table lists 16 variants (rsID) for this gene.

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Clinically classified variants

12 reference-table entries with clinical significance.

  • rs34312154Benignsingle nucleotide variantFetal akinesia deformation sequence 1|Congenital myasthenic syndrome 11|Congenital myasthenic syndrome|Fetal akinesia deformation sequence 1|Congenital myasthenic syndrome 11|Fetal akinesia deformation sequence 2
  • rs34625105Benignsingle nucleotide variantFetal akinesia deformation sequence 1|Congenital myasthenic syndrome 11|Congenital myasthenic syndrome 11|Fetal akinesia deformation sequence 1|Congenital myasthenic syndrome
  • rs45617144Benignsingle nucleotide variantCongenital myasthenic syndrome 11|Fetal akinesia deformation sequence 1|Fetal akinesia deformation sequence 2
  • rs104894293Conflicting interpretationssingle nucleotide variantCongenital myasthenic syndrome 11|Fetal akinesia deformation sequence 1|Global developmental delay|RAPSN-Related Disorders
  • rs104894299Conflicting interpretationssingle nucleotide variantCongenital myasthenic syndrome 4C|Congenital myasthenic syndrome 11|Congenital myasthenic syndrome|Fetal akinesia deformation sequence 1|Myopathy|Congenital myasthenic syndrome 11|Fetal akinesia deformation sequence 1
  • rs149683345Conflicting interpretationssingle nucleotide variantCongenital myasthenic syndrome 11|Fetal akinesia deformation sequence 1|Congenital myasthenic syndrome 11|Fetal akinesia deformation sequence 1|Congenital myasthenic syndrome|Fetal akinesia deformation sequence 2
  • rs56245238Conflicting interpretationssingle nucleotide variantFetal akinesia deformation sequence 1|Congenital myasthenic syndrome 11|Congenital myasthenic syndrome 11|Fetal akinesia deformation sequence 1|Congenital myasthenic syndrome
  • rs104894294Pathogenicsingle nucleotide variantCongenital myasthenic syndrome 11|Myopathy|Congenital myasthenic syndrome 11|Fetal akinesia deformation sequence 1
  • rs104894300Pathogenicsingle nucleotide variantCongenital myasthenic syndrome 11|Fetal akinesia deformation sequence 1|Congenital myasthenic syndrome 11
  • rs121909255Pathogenicsingle nucleotide variantCongenital myasthenic syndrome 11|Congenital myasthenic syndrome 11|Fetal akinesia deformation sequence 1
  • rs121909257Pathogenicsingle nucleotide variantFetal akinesia deformation sequence 2
  • rs786205885PathogenicMicrosatelliteCongenital myasthenic syndrome 11|Congenital myasthenic syndrome

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.