rs2515470784

This variant is located in the COQ8B gene.

ClinVar annotation

Likely Benign☆☆☆
1 submitter1 publication
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About COQ8B

This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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