Home > Gene Browser > COL8A2

COL8A2

Synonyms
FECD, FECD1, PPCD, PPCD2
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
1,156
Likely benign
1,098
Benign
7,035

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on COL8A2 gene.

Phenotype class
Patients in 3billion (%)

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