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ATPAF1

Synonyms
ATP11, ATP11p
External resources
Summary
This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified.

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
5,000
Likely benign
635
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ATPAF1 gene.

Phenotype class
Patients in 3billion (%)

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