rs1408050432
This variant is located in the COL10A1 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout COL10A1
This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq, Jul 2008]
View all COL10A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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