OCA2 - Gene browser

OCA2

OCA2 melanosomal transmembrane protein

HCNC Approved Symbol: OCA2 (HGNC:8101)
Genomic Coordinates: 15:27,719,008 - 28,099,315 (15q12-q13.1)
Synonyms: BEY2, EYCL, BEY, BEY1, D15S12, P, EYCL3, EYCL2
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

42Patients

In total, 42 patients were diagnosed with a variant in the OCA2 gene.

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

042
Patient count

Albinism: 25 (59.5%)
Patient Count: 25 (59.5%)
% of total patients presenting each phenotype is shown in parentheses.
25 (59.5%)
Ocular albinism: 18 (42.9%)
Patient Count: 18 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
18 (42.9%)
Nystagmus: 16 (38.1%)
Patient Count: 16 (38.1%)
% of total patients presenting each phenotype is shown in parentheses.
16 (38.1%)
Photophobia: 9 (21.4%)
Patient Count: 9 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
9 (21.4%)
Poor vision: 7 (16.7%)
Patient Count: 7 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
7 (16.7%)