COQ8A - Gene browser

COQ8A

coenzyme Q8A

HCNC Approved Symbol: COQ8A (HGNC:16812)
Genomic Coordinates: 1:226,940,294 - 226,987,544 (1q42.13)
Synonyms: COQ8, SCAR9, CABC1, ADCK3
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

8Patients

In total, 8 patients were diagnosed with a variant in the COQ8A gene.

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

08
Patient count

Seizures: 3 (37.5%)
Patient Count: 3 (37.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (37.5%)
Ataxia: 3 (37.5%)
Patient Count: 3 (37.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (37.5%)
Ataxia, gait: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Keratoconus: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Obesity: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)