GNAT1

GNAT1

G protein subunit alpha transducin 1

HCNC Approved Symbol: GNAT1 (HGNC:4393)
Genomic Coordinates: 3:50,191,610 - 50,197,696 (3p21.31)
Synonyms: CSNBAD3
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the GNAT1 gene.

Frequently observed phenotypes(Top 5 only)

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

07
Patient count

Rod-cone dystrophy: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Congenital stationary night blindness: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)
Cone dystrophy: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)
Macular dystrophy: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)

Last updated: 2024-06-30