rs1678079858

This variant is located in the ASPRV1 gene.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Autosomal dominant lamellar ichthyosis

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About ASPRV1

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. [provided by RefSeq, May 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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