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COL21A1

Synonyms
COLA1L, FP633
External resources
Summary
This gene encodes the alpha chain of type XXI collagen, a member of the FACIT (fibril-associated collagens with interrupted helices) collagen family. Type XXI collagen is localized to tissues containing type I collagen and maintains the integrity of the extracellular matrix. 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
6,407
Likely benign
1,046
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on COL21A1 gene.

Phenotype class
Patients in 3billion (%)

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