AP1B1 - Gene browser

AP1B1

adaptor related protein complex 1 subunit beta 1

HCNC Approved Symbol: AP1B1 (HGNC:554)
Genomic Coordinates: 22:29,327,680 - 29,388,570 (22q12.2)
Synonyms: BAM22, AP105A, ADTB1, CLAPB2
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

2Patients

In total, 2 patients were diagnosed with a variant in the AP1B1 gene.

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

02
Patient count

Congenital nonbullous ichthyosiform erythroderma: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Hearing impairment: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Hearing loss: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Ichthyosis: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Immunodeficiency: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)