AP3B2 - Gene browser | 3billion

AP3B2

AP3B2

adaptor related protein complex 3 subunit beta 2

HCNC Approved Symbol: AP3B2 (HGNC:567)
Genomic Coordinates: 15:82,659,281 - 82,709,875 (15q25.2)
Synonyms: NAPTB
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the AP3B2 gene.

Frequently observed phenotypes(Top 5 only)

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

02
Patient count

Abnormal eeg: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Epileptic encephalopathy: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Global development delay: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Hypotonia: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)

Last updated: 2024-06-30

AP3B2 - Gene browser | 3billion