COQ8B Chromosome 19

Coenzyme Q8B

38 variants 38 Health Risk

Upload your DNA to see your personal genotypes for variants in COQ8B.

What This Gene Does

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]

Gene Info

Gene Group

ADCK family

Locus Type

gene with protein product

Location

19q13.2

Ensembl

ENSG00000123815

Associated Conditions (10)

COQ8B-related disorder

Retinitis pigmentosa

Retinal disorder

Inborn genetic diseases

Nephrotic syndrome

type 9

Cervical cancer

Mitochondrial disease

Lung cancer

See cases

Key Variants

RS113358395

Conflicting classifications of pathogenicity

Health Risk

RS142018195

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS144343899

Conflicting classifications of pathogenicity

Health Risk

RS146225943

Conflicting classifications of pathogenicity

Health Risk

RS199934542

Conflicting classifications of pathogenicity

Nephrotic syndrome, type 9, Nephrotic syndrome

Health Risk

RS200061712

Conflicting classifications of pathogenicity

Health Risk

RS200480831

Conflicting classifications of pathogenicity

Nephrotic syndrome, type 9, Nephrotic syndrome

Health Risk

RS200841458

Conflicting classifications of pathogenicity

Nephrotic syndrome, type 9, Nephrotic syndrome

Health Risk

RS368182892

Conflicting classifications of pathogenicity

Nephrotic syndrome, type 9, Nephrotic syndrome

Health Risk

RS369205319

Conflicting classifications of pathogenicity

Inborn genetic diseases, Nephrotic syndrome, type 9

Health Risk

RS745669537

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS750037594

Conflicting classifications of pathogenicity

Nephrotic syndrome, type 9, Mitochondrial disease

Health Risk

All Variants (38)

RSID	Category	Clinical Significance	Conditions
RS113358395	Health Risk	Conflicting classifications of pathogenicity	COQ8B-related disorder, Retinitis pigmentosa, Retinal disorder
RS142018195	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS144343899	Health Risk	Conflicting classifications of pathogenicity	COQ8B-related disorder, COQ8B-related disorder
RS146225943	Health Risk	Conflicting classifications of pathogenicity	COQ8B-related disorder, COQ8B-related disorder
RS199934542	Health Risk	Conflicting classifications of pathogenicity	Nephrotic syndrome, type 9, Nephrotic syndrome
RS200061712	Health Risk	Conflicting classifications of pathogenicity	COQ8B-related disorder, Cervical cancer, COQ8B-related disorder
RS200480831	Health Risk	Conflicting classifications of pathogenicity	Nephrotic syndrome, type 9, Nephrotic syndrome
RS200841458	Health Risk	Conflicting classifications of pathogenicity	Nephrotic syndrome, type 9, Nephrotic syndrome
RS368182892	Health Risk	Conflicting classifications of pathogenicity	Nephrotic syndrome, type 9, Nephrotic syndrome
RS369205319	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Nephrotic syndrome, type 9
RS745669537	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS750037594	Health Risk	Conflicting classifications of pathogenicity	Nephrotic syndrome, type 9, Mitochondrial disease
RS761401672	Health Risk	Conflicting classifications of pathogenicity	—
RS763929551	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa, Retinitis pigmentosa
RS764853962	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS1201048143	Health Risk	Likely pathogenic	Lung cancer, Lung cancer
RS2082092886	Health Risk	Likely pathogenic	Nephrotic syndrome, type 9, Nephrotic syndrome
RS398122982	Health Risk	Likely pathogenic	Nephrotic syndrome, type 9, Nephrotic syndrome
RS754975339	Health Risk	Likely pathogenic	Nephrotic syndrome, type 9, Nephrotic syndrome
RS781023923	Health Risk	Likely pathogenic	Nephrotic syndrome, type 9, Nephrotic syndrome
RS1292210350	Health Risk	Pathogenic	—
RS1599922006	Health Risk	Pathogenic	Nephrotic syndrome, type 9, Nephrotic syndrome
RS190695126	Health Risk	Pathogenic	—
RS2082051467	Health Risk	Pathogenic	Nephrotic syndrome, type 9, Nephrotic syndrome
RS2082170216	Health Risk	Pathogenic	Nephrotic syndrome, type 9, Nephrotic syndrome
RS369573693	Health Risk	Pathogenic	Nephrotic syndrome, type 9, Nephrotic syndrome
RS398122979	Health Risk	Pathogenic	Nephrotic syndrome, type 9, Nephrotic syndrome
RS398122981	Health Risk	Pathogenic	Nephrotic syndrome, type 9, Nephrotic syndrome
RS764587648	Health Risk	Pathogenic	Nephrotic syndrome, type 9, Nephrotic syndrome
RS769834604	Health Risk	Pathogenic	Nephrotic syndrome, type 9, Nephrotic syndrome
RS1057519347	Health Risk	Pathogenic/Likely pathogenic	Nephrotic syndrome, type 9, Nephrotic syndrome
RS143411357	Health Risk	Pathogenic/Likely pathogenic	Nephrotic syndrome, type 9, Nephrotic syndrome
RS146616224	Health Risk	Pathogenic/Likely pathogenic	Nephrotic syndrome, type 9, Nephrotic syndrome
RS398122978	Health Risk	Pathogenic/Likely pathogenic	Nephrotic syndrome, type 9, Inborn genetic diseases
RS398122980	Health Risk	Pathogenic/Likely pathogenic	Nephrotic syndrome, type 9, Nephrotic syndrome
RS398122983	Health Risk	Pathogenic/Likely pathogenic	Nephrotic syndrome, type 9, Nephrotic syndrome
RS759259550	Health Risk	Pathogenic/Likely pathogenic	Nephrotic syndrome, type 9, Nephrotic syndrome
RS759968901	Health Risk	Pathogenic/Likely pathogenic	See cases, Nephrotic syndrome, type 9