ATP6V1A - Gene browser

ATP6V1A

ATPase H+ transporting V1 subunit A

HCNC Approved Symbol: ATP6V1A (HGNC:851)
Genomic Coordinates: 3:113,747,035 - 113,812,056 (3q13.31)
Synonyms: Vma1, VA68, VPP2, ATP6A1, ATP6V1A1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the ATP6V1A gene.

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

03
Patient count

Microcephaly: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Bulbous nose: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Bushy eyebrows: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Developmental delay: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Finger clinodactyly: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)