rs201089582

This variant is located in the TSEN54 gene.

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ClinVar annotation

Conflicting Classifications
11 submitters3 publications

not specified; Pontoneocerebellar hypoplasia; not provided; Pontocerebellar hypoplasia type 4;Pontocerebellar hypoplasia type 2A;Pontocerebellar hypoplasia type 5; TSEN54-related disorder; Inborn genetic diseases

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About TSEN54

This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.[provided by RefSeq, Oct 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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