rs779741804
This variant is located in the COL8A2 gene.
▶ClinVar annotation
About COL8A2
This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
View all COL8A2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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