rs41266761

This variant is located in the COL12A1 gene.

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ClinVar annotation

Conflicting Classifications
13 submitters2 publications

not specified; not provided; Ullrich congenital muscular dystrophy 2; Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2; Inborn genetic diseases

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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