ATP6V0A4 - Gene browser

ATP6V0A4

ATPase H+ transporting V0 subunit a4

HCNC Approved Symbol: ATP6V0A4 (HGNC:866)
Genomic Coordinates: 7:138,706,294 - 138,798,196 (7q34)
Synonyms: RDRTA2, VPP2, RTADR, a4, Vph1, Stv1, ATP6N1B, ATP6N2, RTA1C
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the ATP6V0A4 gene.

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

07
Patient count

Hypokalemia: 4 (57.1%)
Patient Count: 4 (57.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (57.1%)
Medullary nephrocalcinosis: 3 (42.9%)
Patient Count: 3 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
3 (42.9%)
Metabolic acidosis: 3 (42.9%)
Patient Count: 3 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
3 (42.9%)
Chronic metabolic acidosis: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Failure to thrive, severe: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)