Home > Gene Browser > UNC79

UNC79

Synonyms
KIAA1409
External resources
Summary
The NALCN channel is responsible for Na(+) leak currents. The protein encoded by this gene, along with UNC80, is an accessory subunit of the NALCN channel that contributes to the Ca(2+) sensitivity of the channel.

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
45
Likely pathogenic
4,197
VUS
25,581
Likely benign
12,422
Benign
0

Patient phenotypes

Proportions of phenotypes among 2181 patients carrying pathogenic or likely pathogenic variants on UNC79 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.4%
Abnormality of the musculoskeletal system
28.2%
Abnormality of head or neck
23.1%
Abnormality of the cardiovascular system
22.9%
Abnormality of the eye
21.7%
Growth abnormality
12.6%
Abnormality of the integument
12.5%
Abnormality of limbs
12.3%
Abnormality of the genitourinary system
11.9%
Abnormality of the ear
11.9%
Abnormality of the digestive system
8.8%
Abnormality of the immune system
7.2%
Abnormality of the endocrine system
5.6%
Abnormality of blood and blood-forming tissues
4.5%
Abnormality of the respiratory system
4.3%
Neoplasm
3.6%
Abnormality of prenatal development or birth
2.2%
Constitutional symptom
1.3%
Abnormal cellular phenotype
1.2%
Abnormality of the breast
0.8%
Abnormality of the voice
0.6%
Abnormality of the thoracic cavity
0%
Abnormality of metabolism homeostasis
0%

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