COQ8B - Gene browser

COQ8B

coenzyme Q8B

HCNC Approved Symbol: COQ8B (HGNC:19041)
Genomic Coordinates: 19:40,691,530 - 40,716,886 (19q13.2)
Synonyms: FLJ12229, COQ8, ADCK4
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

18Patients

In total, 18 patients were diagnosed with a variant in the COQ8B gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

018
Patient count

Proteinuria: 8 (44.4%)
Patient Count: 8 (44.4%)
% of total patients presenting each phenotype is shown in parentheses.
8 (44.4%)
Focal segmental glomerulosclerosis: 5 (27.8%)
Patient Count: 5 (27.8%)
% of total patients presenting each phenotype is shown in parentheses.
5 (27.8%)
Nephrotic syndrome: 3 (16.7%)
Patient Count: 3 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
3 (16.7%)
Nephrotic range proteinuria: 2 (11.1%)
Patient Count: 2 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.1%)
Blue irides: 2 (11.1%)
Patient Count: 2 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.1%)