rs140454290

This variant is located in the POP1 gene.

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ClinVar annotation

Uncertain Significance★★★☆

3 submitters2 publications

not provided; Inborn genetic diseases

About POP1

This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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