rs1057517662

This is a variant in the SPARC gene that changes a arginine to an histidine.

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ClinVar annotation

Pathogenic

1 submitter1 publication

Osteogenesis imperfecta type 17

About SPARC

This gene encodes a cysteine-rich acidic matrix-associated protein. The encoded protein is required for the collagen in bone to become calcified but is also involved in extracellular matrix synthesis and promotion of changes to cell shape. The gene product has been associated with tumor suppression but has also been correlated with metastasis based on changes to cell shape which can promote tumor cell invasion. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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