CACNA1F - Gene browser

CACNA1F

calcium voltage-gated channel subunit alpha1 F

HCNC Approved Symbol: CACNA1F (HGNC:1393)
Genomic Coordinates: 23:49,205,063 - 49,233,340 (Xp11.23)
Synonyms: Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2, CSNB2, AIED
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

17Patients

In total, 17 patients were diagnosed with a variant in the CACNA1F gene.

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

017
Patient count

Congenital stationary night blindness: 5 (29.4%)
Patient Count: 5 (29.4%)
% of total patients presenting each phenotype is shown in parentheses.
5 (29.4%)
Nystagmus: 3 (17.6%)
Patient Count: 3 (17.6%)
% of total patients presenting each phenotype is shown in parentheses.
3 (17.6%)
Abnormality of vision: 2 (11.8%)
Patient Count: 2 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.8%)
Vision issue: 2 (11.8%)
Patient Count: 2 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.8%)
Cone dystrophy: 2 (11.8%)
Patient Count: 2 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.8%)