rs1378815381

This variant is located in the CHST3 gene.

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ClinVar annotation

Likely Pathogenic★☆☆☆
1 submitter2 publications

Spondyloepiphyseal dysplasia with congenital joint dislocations

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About CHST3

This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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