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UNC13A

Synonyms
Munc13-1
External resources
Summary
This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis.

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
10
Likely pathogenic
0
VUS
2,860
Likely benign
3,140
Benign
8,810

Patient phenotypes

Proportions of phenotypes among 8 patients carrying pathogenic or likely pathogenic variants on UNC13A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.5%
Abnormality of the cardiovascular system
25%
Abnormality of the eye
25%
Abnormality of the genitourinary system
25%
Abnormality of head or neck
12.5%
Abnormality of limbs
12.5%
Abnormality of prenatal development or birth
12.5%
Abnormality of the integument
12.5%
Abnormality of the musculoskeletal system
12.5%
Abnormality of the respiratory system
12.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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