rs367988911

This variant is located in the EXOSC5 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters2 publications

not provided; Cerebellar ataxia, brain abnormalities, and cardiac conduction defects

About EXOSC5

Predicted to enable RNA binding activity. Involved in DNA deamination; RNA processing; and mRNA catabolic process. Acts upstream of or within defense response to virus. Located in cytosol; euchromatin; and nuclear lumen. Part of exosome (RNase complex). [provided by Alliance of Genome Resources, Jul 2025]

View all EXOSC5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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