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TP53AIP1

Synonyms
P53AIP1
External resources
Summary
This gene is specifically expressed in the thymus, and encodes a protein that is localized to the mitochondrion. The expression of this gene is inducible by p53, and it is thought to play an important role in mediating p53-dependent apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described 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
1,312
Likely benign
340
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on TP53AIP1 gene.

Phenotype class
Patients in 3billion (%)

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