ATP6AP2 - Gene browser | 3billion

ATP6AP2

ATP6AP2

ATPase H+ transporting accessory protein 2

HCNC Approved Symbol: ATP6AP2 (HGNC:18305)
Genomic Coordinates: 23:40,580,970 - 40,606,848 (Xp11.4)
Synonyms: M8-9, APT6M8-9, ATP6M8-9, PRR, RENR, ATP6IP2
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the ATP6AP2 gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Seizures: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

ATP6AP2 - Gene browser | 3billion