rs1057519340

This is a variant in the CPAMD8 gene that changes a serine to an proline.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Anterior segment dysgenesis 8 (ASGD8)

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About 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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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