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COL8A1

Synonyms
C3orf7
External resources
Summary
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.

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
603
Likely benign
270
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on COL8A1 gene.

Phenotype class
Patients in 3billion (%)

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