rs773863
This variant is located in the CPAMD8 gene.
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout CPAMD8
This gene encodes a member of the protease inhibitor I39 (alpha-2-macroglobulin) family of proteins. These proteins are important in innate and acquired immunity. The encoded protein is membrane-associated and proteolytically processed to generate two chains. Mutations in this gene cause a form of anterior segment dysgenesis, a developmental disorder of the eye. [provided by RefSeq, May 2017]
View all CPAMD8 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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