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AP3S1

Synonyms
CLAPS3, Sigma3A
External resources
Summary
This gene encodes a subunit of the AP3 adaptor complex. This complex functions in the formation of subcellular vesicles budded from the Golgi body. Several related pseudogenes of this gene have been found. Alternative splicing results in multiple transcript variants encoding different isoforms.

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
0
Likely pathogenic
0
VUS
37,820
Likely benign
14,157
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on AP3S1 gene.

Phenotype class
Patients in 3billion (%)

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