Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

PRICKLE1

prickle planar cell polarity protein 1

Chromosome
12
Cytoband
12q12
Variants (rsID)
39

PRICKLE1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q12). Its official name is “prickle planar cell polarity protein 1”. The reference table lists 39 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

13 reference-table entries with clinical significance.

  • rs144843013Benignsingle nucleotide variantEpilepsy, progressive myoclonic, 1B|Seizure
  • rs147268650Benignsingle nucleotide variantEpilepsy, progressive myoclonic, 1B|Seizure
  • rs35854729Benignsingle nucleotide variantEpilepsy, progressive myoclonic, 1B|Seizure
  • rs116197349Conflicting interpretationssingle nucleotide variantEpilepsy, progressive myoclonic, 1B
  • rs141743294Conflicting interpretationssingle nucleotide variantSeizure|Epilepsy, progressive myoclonic, 1B
  • rs145493619Conflicting interpretationssingle nucleotide variantEpilepsy, progressive myoclonic, 1B
  • rs146650383Conflicting interpretationssingle nucleotide variantEpilepsy, progressive myoclonic, 1B
  • rs150545495Conflicting interpretationssingle nucleotide variantEpilepsy, progressive myoclonic, 1B|Seizure
  • rs550752320Conflicting interpretationssingle nucleotide variantSeizure|Epilepsy, progressive myoclonic, 1B
  • rs727504104Conflicting interpretationssingle nucleotide variantEpilepsy, progressive myoclonic, 1B
  • rs370363439Likely benignsingle nucleotide variant
  • rs113994140Likely pathogenicsingle nucleotide variantEpilepsy, progressive myoclonic, 1B
  • rs281865563Uncertain significancesingle nucleotide variantEpilepsy, progressive myoclonic, 1B

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.