rs1160788227

This variant is located in the USP30 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About USP30

USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]).[supplied by OMIM, Dec 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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