rs730882223

This is a variant in the TSEN15 gene that changes a tryptophan to an glycine.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters3 publications

Global developmental delay (DD); Pontocerebellar hypoplasia, type 2F; Primary microcephaly; Seizure

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About TSEN15

This gene encodes a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from tRNA precursors. Alternative splicing results in multiple transcript variants. There is a pseudogene of this gene on chromosome 17. [provided by RefSeq, Jul 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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