rs376790550

This variant is located in the COL21A1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About COL21A1

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. [provided by RefSeq, Jan 2016]

View all COL21A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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