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Gene entry

POLR3B

RNA polymerase III subunit B

Chromosome
12
Cytoband
12q23.3
Variants (rsID)
25

POLR3B is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q23.3). Its official name is “RNA polymerase III subunit B”. The reference table lists 25 variants (rsID) for this gene.

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Clinically classified variants

5 reference-table entries with clinical significance.

  • rs199504211Conflicting interpretationssingle nucleotide variantLeukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome|Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism|Hypogonadotropic hypogonadism 7 with or without anosmia|Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism|Amenorrhea|See cases
  • rs267608687Conflicting interpretationssingle nucleotide variantHypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism|POLR3-related leukodystrophy
  • rs73186443Conflicting interpretationssingle nucleotide variantPol III-related leukodystrophy
  • rs138249161Pathogenicsingle nucleotide variantHypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism|Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism|Hypogonadotropic hypogonadism 7 with or without anosmia|Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome|Pol III-related leukodystrophy|POLR3-related leukodystrophy|Hypogonadotropic hypogonadism|See cases
  • rs200477676Uncertain significancesingle nucleotide variantHypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism

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.