Home > Gene Browser > COL16A1

COL16A1

Synonyms
447AA, FP1572
External resources
Summary
This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion.

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
26,244
Likely benign
13,085
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on COL16A1 gene.

Phenotype class
Patients in 3billion (%)

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