CRYBB2 - Gene browser | 3billion

CRYBB2

CRYBB2

crystallin beta B2

HCNC Approved Symbol: CRYBB2 (HGNC:2398)
Genomic Coordinates: 22:25,211,661 - 25,231,869 (22q11.23)
Synonyms: CCA2, CRYB2A, CRYB2
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the CRYBB2 gene.

Frequently observed phenotypes(Top 5 only)

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

03
Patient count

Cataract: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Pseudoexfoliation: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Bilateral congenital cataracts: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)

Last updated: 2024-06-30

CRYBB2 - Gene browser | 3billion