RPGRIP1 - Gene browser

RPGRIP1

RPGR interacting protein 1

HCNC Approved Symbol: RPGRIP1 (HGNC:13436)
Genomic Coordinates: 14:21,280,083 - 21,351,301 (14q11.2)
Synonyms: RGI1, LCA6, CORD13, RPGRIP
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

10Patients

In total, 10 patients were diagnosed with a variant in the RPGRIP1 gene.

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

010
Patient count

Retinitis pigmentosa: 4 (40.0%)
Patient Count: 4 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (40.0%)
Macular dystrophy: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Reduced visual acuity: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Visual field defect: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Cone-rod dystrophy: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)