CACNA1A - Gene browser

CACNA1A

calcium voltage-gated channel subunit alpha1 A

HCNC Approved Symbol: CACNA1A (HGNC:1388)
Genomic Coordinates: 19:13,206,442 - 13,506,479 (19p13.13)
Synonyms: Cav2.1, EA2, APCA, HPCA, FHM, CACNL1A4, SCA6, MHP1, MHP
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

48Patients

In total, 48 patients were diagnosed with a variant in the CACNA1A gene.

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

048
Patient count

Ataxia: 13 (27.1%)
Patient Count: 13 (27.1%)
% of total patients presenting each phenotype is shown in parentheses.
13 (27.1%)
Epilepsy: 8 (16.7%)
Patient Count: 8 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
8 (16.7%)
Hypotonia: 7 (14.6%)
Patient Count: 7 (14.6%)
% of total patients presenting each phenotype is shown in parentheses.
7 (14.6%)
Intellectual disability: 6 (12.5%)
Patient Count: 6 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
6 (12.5%)
Seizures: 5 (10.4%)
Patient Count: 5 (10.4%)
% of total patients presenting each phenotype is shown in parentheses.
5 (10.4%)