COPB2 - Gene browser

COPB2

COPI coat complex subunit beta 2

HCNC Approved Symbol: COPB2 (HGNC:2232)
Genomic Coordinates: 3:139,357,406 - 139,389,680 (3q23)
Synonyms: beta'-COP, betaprime-COP
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 COPB2 gene.

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

02
Patient count

Microcephaly: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Brain atrophy: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Leukodystrophy: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Neurodevelopmental regression: 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%)