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ACBD3

Synonyms
GCP60, GOCAP1, GOLPH1, PAP7
External resources
Summary
The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal regulation of steroid formation.

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
5,975
Likely benign
865
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ACBD3 gene.

Phenotype class
Patients in 3billion (%)

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