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Gene entry

PRICKLE2

prickle planar cell polarity protein 2

Chromosome
3
Cytoband
3p14.1
Variants (rsID)
94

PRICKLE2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p14.1). Its official name is “prickle planar cell polarity protein 2”. The reference table lists 94 variants (rsID) for this gene.

Clinically classified variants

5 reference-table entries with clinical significance.

  • rs14056Benignsingle nucleotide variantProgressive myoclonic epilepsy
  • rs17720698Benignsingle nucleotide variantProgressive myoclonic epilepsy|Epilepsy, progressive myoclonic 5
  • rs139747674Conflicting interpretationssingle nucleotide variantMyoclonic epilepsy, progressive, X-linked|Epilepsy, progressive myoclonic 5|Progressive myoclonic epilepsy
  • rs180903875Conflicting interpretationssingle nucleotide variantEpilepsy, progressive myoclonic 5|Progressive myoclonic epilepsy
  • rs188632189Uncertain significancesingle nucleotide variantEpilepsy, progressive myoclonic 5

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.