rs775204637
This variant is located in the TSEN34 gene.
▶ClinVar annotation
About TSEN34
This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor. A mutation in this gene results in the neurological disorder pontocerebellar hypoplasia type 2. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Oct 2009]
View all TSEN34 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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