rs77124584

This variant is located in the CHST3 gene.

▶

ClinVar annotation

Likely Benign★★★☆
4 submitters2 publications

Spondyloepiphyseal dysplasia with congenital joint dislocations; Spondyloepiphyseal dysplasia with congenital joint dislocations;Larsen-like syndrome, B3GAT3 type; not provided

View on ClinVar →

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]

View all CHST3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…