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ACBD4

Synonyms
HMFT0700
External resources
Summary
This gene encodes a member of the acyl-coenzyme A binding domain containing protein family. All family members contain the conserved acyl-Coenzyme A binding domain, which binds acyl-CoA thiol esters. They are thought to play roles in acyl-CoA dependent lipid metabolism. Multiple transcript variants encoding different isoforms have been found for this gene.

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
3,003
Likely benign
330
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ACBD4 gene.

Phenotype class
Patients in 3billion (%)

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