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Gene entry

PURA

purine rich element binding protein A

Chromosome
5
Cytoband
5q31.3
Variants (rsID)
6

PURA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q31.3). Its official name is “purine rich element binding protein A”. The reference table lists 6 variants (rsID) for this gene.

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Clinically classified variants

4 reference-table entries with clinical significance.

  • rs587782991PathogenicDeletionIntellectual disability|Global developmental delay|Neonatal hypotonia|Delayed speech and language development|Seizure|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
  • rs587782996Pathogenicsingle nucleotide variantGlobal developmental delay|Seizure|Neonatal hypotonia|Delayed speech and language development|Intellectual disability|Abnormality of the nervous system
  • rs786204835PathogenicMicrosatellitePURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome|Inborn genetic diseases
  • rs793888533PathogenicDeletionPURA-related severe neonatal hypotonia-seizures-encephalopathy 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.