ATP6AP1 - Gene browser

ATP6AP1

ATPase H+ transporting accessory protein 1

HCNC Approved Symbol: ATP6AP1 (HGNC:868)
Genomic Coordinates: 23:154,428,677 - 154,436,516 (Xq28)
Synonyms: ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2, ATP6S1, ATP6IP1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

3Patients

In total, 3 patients were diagnosed with a variant in the ATP6AP1 gene.

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

03
Patient count

Cirrhosis: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Elevated hepatic transaminase: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Hepatic failure: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Cutis laxa: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Hypogammaglobulinemia: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)