rs776511215

This variant is located in the TSEN2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Pontoneocerebellar hypoplasia

About TSEN2

This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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