rs886056905

This variant is located in the COL9A3 gene.

ClinVar annotation

Likely Benign☆☆☆
1 submitter1 publication
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About COL9A3

This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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