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CACNA1H

Synonyms
CACNA1HB, Cav3.2, ECA6, EIG6, HALD4
External resources
Summary
This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE).

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
79
Likely pathogenic
2
VUS
11,630
Likely benign
20,725
Benign
6,089

Patient phenotypes

Proportions of phenotypes among 37 patients carrying pathogenic or likely pathogenic variants on CACNA1H gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
64.9%
Abnormality of the musculoskeletal system
35.1%
Abnormality of head or neck
29.7%
Growth abnormality
21.6%
Abnormality of the cardiovascular system
16.2%
Abnormality of limbs
13.5%
Abnormality of the eye
10.8%
Abnormality of the digestive system
8.1%
Abnormality of the ear
8.1%
Abnormality of the genitourinary system
8.1%
Abnormality of the integument
5.4%
Abnormality of the endocrine system
2.7%
Abnormality of the respiratory system
2.7%
Abnormality of the voice
2.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

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