Home > Gene Browser > SLC18A1

SLC18A1

Synonyms
CGAT, VAT1, VMAT1
External resources
Summary
The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993

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
11
Likely pathogenic
0
VUS
10,023
Likely benign
1,220
Benign
0

Patient phenotypes

Proportions of phenotypes among 10 patients carring pathogenic or likely pathogenic variants on SLC18A1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
60%
Abnormality of the musculoskeletal system
50%
Abnormality of head or neck
40%
Abnormality of the ear
40%
Abnormality of the nervous system
30%
Abnormality of the cardiovascular system
20%
Growth abnormality
20%
Abnormality of blood and blood-forming tissues
10%
Abnormality of limbs
10%
Abnormality of the endocrine system
10%
Abnormality of the immune system
10%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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