SLC45A2 - Gene browser

SLC45A2

solute carrier family 45 member 2

HCNC Approved Symbol: SLC45A2 (HGNC:16472)
Genomic Coordinates: 5:33,944,623 - 33,984,693 (5p13.2)
Synonyms: AIM-1, OCA4, MATP
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

11Patients

In total, 11 patients were diagnosed with a variant in the SLC45A2 gene.

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

011
Patient count

Albinism: 8 (72.7%)
Patient Count: 8 (72.7%)
% of total patients presenting each phenotype is shown in parentheses.
8 (72.7%)
Ocular albinism: 6 (54.5%)
Patient Count: 6 (54.5%)
% of total patients presenting each phenotype is shown in parentheses.
6 (54.5%)
Amblyopia: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Blue sclerae: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Coronal hypospadias: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)