rs104893645

This is a variant in the MATN3 gene that changes a valine to an aspartate.

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ClinVar annotation

Pathogenic
2 submitters4 publications

Multiple epiphyseal dysplasia; Multiple epiphyseal dysplasia type 5 (EDM5)

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About MATN3

This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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