rs113994150

This is a variant in the TSEN34 gene that changes a arginine to an tryptophan.

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ClinVar annotation

Pathogenic

2 submitters2 publications

Pontocerebellar hypoplasia type 2C (PCH2C)

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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