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CACNA1I

calcium voltage-gated channel subunit alpha1 I

HCNC Approved Symbol
CACNA1I (HGNC:1396)
Genomic Coordinates
22:39,570,753 - 39,689,735 (22q13.1)
Synonyms
Cav3.3
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the CACNA1I gene.

Frequently observed phenotypes

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

Anxiety
 1 (100.0%)
Growth retardation
 1 (100.0%)
Hypotonia
 1 (100.0%)
Impaired language development
 1 (100.0%)
Intellectual disability
 1 (100.0%)
CACNA1I - Gene browser | 3billion