ATP6V1B2 - Gene browser

ATP6V1B2

ATPase H+ transporting V1 subunit B2

HCNC Approved Symbol: ATP6V1B2 (HGNC:854)
Genomic Coordinates: 8:20,197,381 - 20,221,696 (8p21.3)
Synonyms: VATB, Vma2, HO57, VPP3, ATP6B2
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the ATP6V1B2 gene.

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

02
Patient count

Developmental delay: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Dysarthria: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Frontal bossing: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Prominent nose: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Seizures: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)