rs397514532

This is a variant in the ALOX12B gene that changes a arginine to an tryptophan.

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ClinVar annotation

Pathogenic★★★☆
9 submitters6 publications

Autosomal recessive congenital ichthyosis 2 (ARCI2); Congenital ichthyosiform erythroderma; Congenital nonbullous ichthyosiform erythroderma; Lamellar ichthyosis

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About ALOX12B

This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Sep 2015]

View all ALOX12B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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