Home > Gene Browser > SCN4A

SCN4A

Synonyms
CMS16, HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1
External resources
Summary
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
23
Likely pathogenic
6
VUS
6,813
Likely benign
2,289
Benign
0

Patient phenotypes

Proportions of phenotypes among 29 patients carring pathogenic or likely pathogenic variants on SCN4A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
41.4%
Abnormality of the nervous system
34.5%
Abnormality of head or neck
24.1%
Abnormality of the cardiovascular system
20.7%
Abnormality of limbs
17.2%
Abnormality of blood and blood-forming tissues
13.8%
Abnormality of the ear
10.3%
Abnormality of the eye
10.3%
Abnormality of the genitourinary system
10.3%
Abnormality of the integument
10.3%
Growth abnormality
10.3%
Abnormality of the digestive system
6.9%
Abnormality of the endocrine system
3.4%
Constitutional symptom
3.4%
Abnormal cellular phenotype
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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