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SAG

S-antigen visual arrestin

HCNC Approved Symbol
SAG (HGNC:10521)
Genomic Coordinates
2:233,307,816 - 233,347,055 (2q37.1)
Synonyms
ARRESTIN, RP47
Disease Associations
This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

8Patients

In total, 8 patients were diagnosed with a variant in the SAG gene.

Frequently observed phenotypes

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

Retinitis pigmentosa
 6 (75.0%)
Congenital stationary night blindness
 2 (25.0%)
Night blindness
 
1 (12.5%)
Astigmatism
 
1 (12.5%)
Hypertension
 
1 (12.5%)
SAG - Gene browser | 3billion