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ATP6V0A1

ATPase H+ transporting V0 subunit a1

HCNC Approved Symbol
ATP6V0A1 (HGNC:865)
Genomic Coordinates
17:42,458,878 - 42,522,579 (17q21.2)
Synonyms
a1, Vph1, Stv1, VPP1, ATP6N1, ATP6N1A
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Developmental and epileptic encephalopathy 104
619970AD
Neurodevelopmental disorder with epilepsy and brain atrophy
619971AR

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the ATP6V0A1 gene.

Frequently observed phenotypes

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

Global developmental delay
 1 (100.0%)