Home > Gene Browser > SLC18A3

SLC18A3

Synonyms
CMS21, VACHT
External resources
Summary
This gene is a member of the vesicular amine transporter family. The encoded transmembrane protein transports acetylcholine into secretory vesicles for release into the extracellular space. Acetylcholine transport utilizes a proton gradient established by a vacuolar ATPase. This gene is located within the first intron of the choline acetyltransferase gene.

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
0
Likely pathogenic
0
VUS
530
Likely benign
5,918
Benign
69

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SLC18A3 gene.

Phenotype class
Patients in 3billion (%)

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