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NAAA

Synonyms
ASAHL, PLT
External resources
Summary
This gene encodes an N-acylethanolamine-hydrolyzing enzyme which is highly similar to acid ceramidase. 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
2,361
Likely benign
705
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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