ATP6V1B1 - Gene browser

ATP6V1B1

ATPase H+ transporting V1 subunit B1

HCNC Approved Symbol: ATP6V1B1 (HGNC:853)
Genomic Coordinates: 2:70,935,900 - 70,965,431 (2p13.3)
Synonyms: VATB, RTA1B, Vma2, VPP3, ATP6B1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

13Patients

In total, 13 patients were diagnosed with a variant in the ATP6V1B1 gene.

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

013
Patient count

Metabolic acidosis: 10 (76.9%)
Patient Count: 10 (76.9%)
% of total patients presenting each phenotype is shown in parentheses.
10 (76.9%)
Hypokalemia: 8 (61.5%)
Patient Count: 8 (61.5%)
% of total patients presenting each phenotype is shown in parentheses.
8 (61.5%)
Polyuria: 6 (46.2%)
Patient Count: 6 (46.2%)
% of total patients presenting each phenotype is shown in parentheses.
6 (46.2%)
Nephrocalcinosis: 6 (46.2%)
Patient Count: 6 (46.2%)
% of total patients presenting each phenotype is shown in parentheses.
6 (46.2%)
Vomiting: 5 (38.5%)
Patient Count: 5 (38.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (38.5%)