rs1555453695

This variant is located in the ACAN gene.

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ClinVar annotation

Pathogenic

1 submitter1 publication

Short stature and advanced bone age, with early-onset osteoarthritis

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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