COX6A1

COX6A1

cytochrome c oxidase subunit 6A1

HCNC Approved Symbol: COX6A1 (HGNC:2277)
Genomic Coordinates: 12:120,438,113 - 120,440,730 (12q24.31)
Synonyms: COX6AL, COX6A
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

3billion 유전진단 검사 알아보기

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the COX6A1 gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Motor delay: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Motor polyneuropathy: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Steppage gait: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30