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ASPRV1

Synonyms
ADLI, MUNO, SASP, SASPase, Taps
External resources
Summary
Filaggrin is a structural protein that is crucial for in the development and maintenance of the skin barrier. This gene encodes a retroviral-like protease involved in profilaggrin-to-filaggrin processing. Expression is found primarily in the epidermis and inner root sheath of hair follicles.

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
899
Likely benign
1,678
Benign
3,060

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ASPRV1 gene.

Phenotype class
Patients in 3billion (%)

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