rs764312334
This variant is located in the COL8A1 gene.
▶ClinVar annotation
About COL8A1
This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]
View all COL8A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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