rs2141563841

This variant is located in the ACAN gene.

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ClinVar annotation

Pathogenic★☆☆☆
1 submitter2 publications

Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans

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About ACAN

This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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