BEST1 - Gene browser

BEST1

bestrophin 1

HCNC Approved Symbol: BEST1 (HGNC:12703)
Genomic Coordinates: 11:61,949,821 - 61,965,515 (11q12.3)
Synonyms: BMD, BEST, RP50, VMD2
Disease Associations: This gene is associated with the following 6 diseases in OMIM.

52Patients

In total, 52 patients were diagnosed with a variant in the BEST1 gene.

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

052
Patient count

Vision issue: 12 (23.1%)
Patient Count: 12 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
12 (23.1%)
Decreased visual acuity: 9 (17.3%)
Patient Count: 9 (17.3%)
% of total patients presenting each phenotype is shown in parentheses.
9 (17.3%)
Night blindness: 8 (15.4%)
Patient Count: 8 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
8 (15.4%)
Retinal disease: 5 (9.6%)
Patient Count: 5 (9.6%)
% of total patients presenting each phenotype is shown in parentheses.
5 (9.6%)
Retinitis pigmentosa: 5 (9.6%)
Patient Count: 5 (9.6%)
% of total patients presenting each phenotype is shown in parentheses.
5 (9.6%)