CACNA1G - Gene browser

CACNA1G

calcium voltage-gated channel subunit alpha1 G

HCNC Approved Symbol: CACNA1G (HGNC:1394)
Genomic Coordinates: 17:50,560,715 - 50,627,474 (17q21.33)
Synonyms: Cav3.1, NBR13
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

6Patients

In total, 6 patients were diagnosed with a variant in the CACNA1G gene.

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

06
Patient count

Ataxic gait: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Intellectual disability: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Hypotonia: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Cerebellar ataxia: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Autism: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)