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CACNA1S

Synonyms
CACNL1A3, CCHL1A3, Cav1.1, HOKPP, HOKPP1, MHS5, TTPP1, hypoPP
External resources
Summary
This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility.

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
15
Likely pathogenic
4
VUS
9,149
Likely benign
18,096
Benign
7,456

Patient phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on CACNA1S gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
57.9%
Abnormality of head or neck
31.6%
Abnormality of the musculoskeletal system
31.6%
Abnormality of the cardiovascular system
26.3%
Growth abnormality
26.3%
Abnormality of the eye
21.1%
Abnormality of the integument
21.1%
Abnormality of limbs
15.8%
Abnormality of the ear
10.5%
Abnormality of the genitourinary system
10.5%
Abnormality of blood and blood-forming tissues
5.3%
Abnormality of prenatal development or birth
5.3%
Abnormality of the breast
5.3%
Abnormality of the endocrine system
5.3%
Constitutional symptom
5.3%
Neoplasm
5.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the digestive system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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