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IFI30

Synonyms
GILT, IFI-30, IP-30, IP30
External resources
Summary
The protein encoded by this gene is a lysosomal thiol reductase that at low pH can reduce protein disulfide bonds. The enzyme is expressed constitutively in antigen-presenting cells and induced by gamma-interferon in other cell types. This enzyme has an important role in MHC class II-restricted antigen processing.

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
2,442
Likely benign
650
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on IFI30 gene.

Phenotype class
Patients in 3billion (%)

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