rs1767573014
This variant is located in the COL12A1 gene.
▶ClinVar annotation
Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2
View on ClinVar →About COL12A1
This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
View all COL12A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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