MT-ATP6 - Gene browser

MT-ATP6

mitochondrially encoded ATP synthase membrane subunit 6

HCNC Approved Symbol: MT-ATP6 (HGNC:7414)
Genomic Coordinates: -:- - - (mitochondria)
Synonyms: ATP6, ATPase-6, Su6m, MTATP6, RP
Disease Associations: Currently, this gene is not associated with any human disease in OMIM.

34Patients

In total, 34 patients were diagnosed with a variant in the MT-ATP6 gene.

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

034
Patient count

Decreased visual acuity: 7 (20.6%)
Patient Count: 7 (20.6%)
% of total patients presenting each phenotype is shown in parentheses.
7 (20.6%)
Night blindness: 7 (20.6%)
Patient Count: 7 (20.6%)
% of total patients presenting each phenotype is shown in parentheses.
7 (20.6%)
Ataxia: 6 (17.6%)
Patient Count: 6 (17.6%)
% of total patients presenting each phenotype is shown in parentheses.
6 (17.6%)
Optic atrophy: 5 (14.7%)
Patient Count: 5 (14.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (14.7%)
Hypotonia: 4 (11.8%)
Patient Count: 4 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (11.8%)