CACNA1C - Gene browser

CACNA1C

calcium voltage-gated channel subunit alpha1 C

HCNC Approved Symbol: CACNA1C (HGNC:1390)
Genomic Coordinates: 12:1,970,780 - 2,697,950 (12p13.33)
Synonyms: Cav1.2, CACH2, CACN2, TS, LQT8, CCHL1A1, CACNL1A1, CACNA1C-IT2
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

12Patients

In total, 12 patients were diagnosed with a variant in the CACNA1C gene.

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

012
Patient count

Global developmental delay: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Microcephaly: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Short stature: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Left ventricular hypertrophy: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Generalized hypotonia: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)