Home > Gene Browser > COL19A1

COL19A1

Synonyms
COL9A1L, D6S228E
External resources
Summary
This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other 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. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced.

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
18,342
Likely benign
9,227
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on COL19A1 gene.

Phenotype class
Patients in 3billion (%)

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