ATP6V0A2 - Gene browser

ATP6V0A2

ATPase H+ transporting V0 subunit a2

HCNC Approved Symbol: ATP6V0A2 (HGNC:18481)
Genomic Coordinates: 12:123,712,353 - 123,761,755 (12q24.31)
Synonyms: TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1, a2V, RTF
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

5Patients

In total, 5 patients were diagnosed with a variant in the ATP6V0A2 gene.

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

05
Patient count

Dysgenesis of corpus callosum: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Brachydactyly: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Congenital dislocation of the hips: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Dysmorphic facies: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Increased dermatoglyphic whorls: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)