Home > Gene Browser > UNC79
UNC79
- Synonyms
- KIAA1409
- External resources
- NCBI57578
- OMIM616884
- EnsemblENSG00000133958
- HGNCHGNC:19966
- 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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