rs77801349
This variant is located in the COQ8B gene.
▶ClinVar annotation
Likely Benign★★★☆
4 submitters2 publicationsnot specified; not provided; Nephrotic syndrome, type 9
View on ClinVar →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]
View all COQ8B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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