rs199766569

This is a variant in the ALOX12B gene that changes a tyrosine to an cysteine.

▶

ClinVar annotation

Pathogenic★★★☆
16 submitters9 publications

Autosomal recessive congenital ichthyosis 2 (ARCI2); Ichthyosis; Lamellar ichthyosis

View on ClinVar →

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…