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CACNA1C

Synonyms
CACH2, CACN2, CACNL1A1, CCHL1A1, CaV1.2, LQT8, TS, TS. LQT8
External resources
Summary
This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits.

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
20
Likely pathogenic
16
VUS
18,608
Likely benign
10,592
Benign
8,839

Patient phenotypes

Proportions of phenotypes among 34 patients carrying pathogenic or likely pathogenic variants on CACNA1C gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
64.7%
Neoplasm
29.4%
Abnormality of the endocrine system
26.5%
Abnormality of the musculoskeletal system
23.5%
Abnormality of the eye
20.6%
Abnormality of the cardiovascular system
17.6%
Abnormality of head or neck
14.7%
Abnormality of the integument
14.7%
Abnormality of blood and blood-forming tissues
8.8%
Abnormality of the ear
8.8%
Abnormality of the immune system
8.8%
Growth abnormality
8.8%
Abnormal cellular phenotype
5.9%
Abnormality of limbs
5.9%
Abnormality of the genitourinary system
5.9%
Abnormality of the digestive system
2.9%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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