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ACAA2

Synonyms
DSAEC
External resources
Summary
The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal.

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
4,689
Likely benign
4,570
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ACAA2 gene.

Phenotype class
Patients in 3billion (%)

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