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Gene entry

TSEN54

tRNA splicing endonuclease subunit 54

Chromosome
17
Cytoband
17q25.1
Variants (rsID)
13

TSEN54 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q25.1). Its official name is “tRNA splicing endonuclease subunit 54”. The reference table lists 13 variants (rsID) for this gene.

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Clinically classified variants

12 reference-table entries with clinical significance.

  • rs11559205Benignsingle nucleotide variantPontoneocerebellar hypoplasia|Pontocerebellar hypoplasia type 2A|Pontocerebellar hypoplasia type 4|Pontocerebellar hypoplasia type 5
  • rs138560086Benignsingle nucleotide variantPontoneocerebellar hypoplasia
  • rs138719855Benignsingle nucleotide variantPontoneocerebellar hypoplasia
  • rs144662042Benignsingle nucleotide variantPontoneocerebellar hypoplasia
  • rs148146916Benignsingle nucleotide variantPontoneocerebellar hypoplasia
  • rs150169668Benignsingle nucleotide variantPontoneocerebellar hypoplasia
  • rs189860274Benignsingle nucleotide variant
  • rs62088470Benignsingle nucleotide variantPontoneocerebellar hypoplasia|Pontocerebellar hypoplasia type 2A|Pontocerebellar hypoplasia type 5|Pontocerebellar hypoplasia type 4
  • rs8064529Benignsingle nucleotide variantPontoneocerebellar hypoplasia|Pontocerebellar hypoplasia type 4|Pontocerebellar hypoplasia type 2A|Pontocerebellar hypoplasia type 5
  • rs151332020Conflicting interpretationssingle nucleotide variantPontoneocerebellar hypoplasia
  • rs113994152Pathogenicsingle nucleotide variantPontocerebellar hypoplasia type 2A|Olivopontocerebellar hypoplasia|Pontocerebellar hypoplasia type 4|Pontocerebellar hypoplasia type 5|Congenital cerebellar hypoplasia|Global developmental delay|Microcephaly|Pontocerebellar hypoplasia type 2A|Pontocerebellar hypoplasia type 4|Inborn genetic diseases|Global developmental delay|Amblyopia|Hypertonia|Pontoneocerebellar hypoplasia|Intellectual disability|Pontocerebellar hypoplasia type 5|Pontocerebellar hypoplasia type 2A|Pontocerebellar hypoplasia type 4|Pontocerebellar hypoplasia type 2|Pontocerebellar hypoplasia type 4
  • rs200540627Uncertain significancesingle nucleotide variantPontocerebellar hypoplasia type 5

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.