rs794726965
This variant is located in the TSEN54 gene.
▶ClinVar annotation
Uncertain Significance★★★☆
3 submitters1 publicationAbout 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]
View all TSEN54 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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