CYP1B1 - Gene browser

CYP1B1

cytochrome P450 family 1 subfamily B member 1

HCNC Approved Symbol: CYP1B1 (HGNC:2597)
Genomic Coordinates: 2:38,067,509 - 38,076,151 (2p22.2)
Synonyms: CP1B, GLC3A
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

35Patients

In total, 35 patients were diagnosed with a variant in the CYP1B1 gene.

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

035
Patient count

Glaucoma: 17 (48.6%)
Patient Count: 17 (48.6%)
% of total patients presenting each phenotype is shown in parentheses.
17 (48.6%)
Primary congenital glaucoma: 17 (48.6%)
Patient Count: 17 (48.6%)
% of total patients presenting each phenotype is shown in parentheses.
17 (48.6%)
Buphthalmos: 14 (40.0%)
Patient Count: 14 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
14 (40.0%)
Congenital glaucoma: 13 (37.1%)
Patient Count: 13 (37.1%)
% of total patients presenting each phenotype is shown in parentheses.
13 (37.1%)
Anterior segment dysgenesis: 11 (31.4%)
Patient Count: 11 (31.4%)
% of total patients presenting each phenotype is shown in parentheses.
11 (31.4%)