Gene entry
PRRT2
proline rich transmembrane protein 2
- Chromosome
- 16
- Cytoband
- 16p11.2
- Variants (rsID)
- 2
PRRT2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16p11.2). Its official name is “proline rich transmembrane protein 2”. The reference table lists 2 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs140383655Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Episodic kinesigenic dyskinesia
- rs387907126Pathogenicsingle nucleotide variantInfantile convulsions and choreoathetosis|Episodic kinesigenic dyskinesia|Episodic kinesigenic dyskinesia 1|Seizures, benign familial infantile, 2
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.