Gene entry
PNPT1
polyribonucleotide nucleotidyltransferase 1
- Chromosome
- 2
- Cytoband
- 2p16.1
- Variants (rsID)
- 20
PNPT1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p16.1). Its official name is “polyribonucleotide nucleotidyltransferase 1”. The reference table lists 20 variants (rsID) for this gene.
Clinically classified variants
11 reference-table entries with clinical significance.
- rs13013133Benignsingle nucleotide variant
- rs2586951Benignsingle nucleotide variant
- rs35405862Benignsingle nucleotide variant
- rs7594497Benignsingle nucleotide variant
- rs782633Benignsingle nucleotide variant
- rs143712760Conflicting interpretationssingle nucleotide variantCombined oxidative phosphorylation defect type 13|Neurodevelopmental disorder|Combined oxidative phosphorylation defect type 13|Autosomal recessive nonsyndromic hearing loss 70|Inborn genetic diseases
- rs146571352Conflicting interpretationssingle nucleotide variantCombined oxidative phosphorylation defect type 13|Combined oxidative phosphorylation defect type 13|Autosomal recessive nonsyndromic hearing loss 70
- rs151166046Conflicting interpretationssingle nucleotide variantCombined oxidative phosphorylation defect type 13
- rs34928857Conflicting interpretationssingle nucleotide variantCombined oxidative phosphorylation defect type 13|Autosomal recessive nonsyndromic hearing loss 70|Combined oxidative phosphorylation defect type 13
- rs374698153Conflicting interpretationssingle nucleotide variantCombined oxidative phosphorylation defect type 13
- rs137893343Uncertain significancesingle nucleotide variant
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.