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CACNA1I

Synonyms
Cav3.3, ca(v)3.3
External resources
Summary
This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
415
Likely pathogenic
1
VUS
42,043
Likely benign
19,268
Benign
0

Patient phenotypes

Proportions of phenotypes among 400 patients carrying pathogenic or likely pathogenic variants on CACNA1I gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.5%
Abnormality of the cardiovascular system
27.5%
Abnormality of the musculoskeletal system
25.3%
Abnormality of head or neck
17%
Abnormality of the eye
16.3%
Abnormality of limbs
11.3%
Abnormality of the ear
11.3%
Growth abnormality
9.3%
Abnormality of the digestive system
9%
Abnormality of the integument
8.8%
Abnormality of the genitourinary system
8.5%
Abnormality of the immune system
7%
Abnormality of the endocrine system
4.5%
Abnormality of the respiratory system
4%
Abnormality of blood and blood-forming tissues
3.8%
Abnormality of prenatal development or birth
2.8%
Neoplasm
2.8%
Constitutional symptom
0.8%
Abnormal cellular phenotype
0.5%
Abnormality of the breast
0.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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