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Gene entry

POLR3A

RNA polymerase III subunit A

Chromosome
10
Cytoband
10q22.3
Variants (rsID)
29

POLR3A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q22.3). Its official name is “RNA polymerase III subunit A”. The reference table lists 29 variants (rsID) for this gene.

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Clinically classified variants

13 reference-table entries with clinical significance.

  • rs12572507Benignsingle nucleotide variantLeukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
  • rs146253630Benignsingle nucleotide variantLeukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
  • rs4979935Benignsingle nucleotide variantLeukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
  • rs56214655Benignsingle nucleotide variantLeukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
  • rs267608673Conflicting interpretationssingle nucleotide variantLeukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
  • rs146925988Likely benignsingle nucleotide variantLeukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
  • rs267608671Likely pathogenicsingle nucleotide variantLeukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
  • rs141659018Pathogenicsingle nucleotide variantNeonatal pseudo-hydrocephalic progeroid syndrome|Wiedemann-Rautenstrauch-like progeroid syndrome
  • rs181087667Pathogenicsingle nucleotide variantLeukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome|Neonatal pseudo-hydrocephalic progeroid syndrome
  • rs267608670Pathogenicsingle nucleotide variantLeukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
  • rs267608677Pathogenicsingle nucleotide variantLeukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome|Neonatal pseudo-hydrocephalic progeroid syndrome
  • rs200118797Not classifiedsingle nucleotide variantLeukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
  • rs267608680Not classifiedsingle nucleotide variantLeukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome

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.