Gene entry
PRUNE1
prune exopolyphosphatase 1
- Chromosome
- 1
- Cytoband
- 1q21.3
- Variants (rsID)
- 8
PRUNE1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q21.3). Its official name is “prune exopolyphosphatase 1”. The reference table lists 8 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs1057521927Pathogenicsingle nucleotide variantNeurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies|Abnormality of brain morphology
- rs767769359Pathogenicsingle nucleotide variantAbnormality of brain morphology|Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
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.